CHAPTERS

1. Heredity and Variation :

Mendelian Inheritance Deviations from Mendelism-Incomplete dominance, Co-

dominance, Multiple alleles and Inheritance of blood groups, Pleiotropy;

Elementary idea of polygenic inheritance; Chromosome theory of inheritance;

Chromosomes and genes; Linkage and crossing over.

2. Molecular Basis of Inheritance :

Search for genetic material and DNA as genetic material; Structure of DNA and

RNA; DNA packaging; DNA replication; Central dogma; Transcription, Genetic

code, Translation Gene expression and regulation- Lac Operon; Genome and

human genome project; DNA finger printing.

Wwwwwwwwwwwwwwww
 CONTINUITY OF LIFE
GENETICS :
 The branch of biology which deals with study of heredity and variation is known as Genetics.
 The term “Genetics” was coined by William Bateson (father of modern genetics) in 1906.
 The term “Gene” was coined by Johannsen (1909)
HEREDITY AND VARIATION
 Continuity of life from generation to generation is an important characteristic of all living organisms.
 This is due to transmission of element/factor from the parents to children which is now called genes.
 A male parent contributes one chromosome set and a female parent contributes another chromosome
set through their gametes.(to make the cell of offspring diploid)
HEREDITY : The transmission of character from parent to the offspring is called heredity.(from
generation to generation)
VARIATION :
 The differences or dissimilarities shown by the offspring the is called variation.
 The variation either occurs in somatic cells or in germinal cell. The variation which occurs in
somatic cell is called somatic (somatogenic) variation. This is not inheritable.
 The variation which occur in germinal cell is called germinal (blastogenic) variation. This is
inheritable.
MENDEL’S LAWS OF INHERITENCE :
 The Austrian Monk Gregor Johan Mendel was 1st to explain the mechanism involved in
transmission of character from parent to offspring or generation after generation.
 He is therefore considered as pioneer of modern genetics and is called as father of genetics.
 Mendal was born on 22 July 1822 in a gardener family. He started his historic experiment on Garden
Pea (Pisum sativum) in the monastery garden (1956-1964).
 The results of Mendel’s experiment were presented in the paper entitled “ Experiments in Plant
Hybridization” before Brunn Natural history society in 1865. Later published in the proceedings of
the society in 1866.
 The paper remained practically unnoticed during Mendel’s life time. (Died 1884)
 Mendels work was rediscovered by Hugo de Vries, Carl Correns and E.V. Tschermak independently
in1900.
 Mendel studied the inheritance of seven different pairs of contrasting characters in Garden Pea but
considered only one pair at a time.

1
 Contrasting pairs of characters in garden pea:
Trait
Character
Dominance Recessive
1. Length of stem Tall Dwarf
2. Position of Flower/ Axial Terminal
Position of Pod
3. Pod colour Green Yellow
4. Pod shape Inflated Constricted
5. Seed Coat colour Grey White
6. Seed(Cotyledon) colour Yellow Green
7. Seed shape/ Form Round Wrinkled

Selection of pea plant

1. Peas are predominantly self pollinated.
2. It is an annual plant.
3. It is easy to cultivate.
4. Hybridization (artificial cross pollination) is easy in pea plant.
5. Peas have short generation period.
6. Peas have well defined characters.
Working Method: Mendel’s success was also due to his meticulous planning and method of work.

2
SOME TERMINOLOGY RELATED TO MENDELISM:
Character :  It is a well defined morphological or physiological feature of an
organism.

Trait :  It is a distinguishing feature of a character.

Element/Factor /Gene :  The basic unit of inheritance for a given character. It is functional part
of DNA which is responsible for the expression of the character. It
determines a biological characteristic of an organism. Mendelian
factor is now known as gene.

Locus :  The position of a gene on chromosome. Or Specific region

representing single gene or allele.

Allele :  Alternative forms of the same gene which determine contrasting

expressions of a character.

 A pair of contrasting characters is called allelomorph or allele.

 Term allele was given by W. Bateson for alternative forms of same

gene, e.g. T and t, Y and y, R and r are pair of alleles. Gene for
tallness (T) and dwarfness (t).

Homozygous :  Diploid conditions when both the alleles of a particular pair are
identical. Eg: Pure tall (TT) or dwarf(tt)

Heterozygous :  Diploid conditions when both alleles of a particular pair are different.
Eg: Hybrid tall (Tt)

Phenotype :  The external expressed characters of a organism is called phenotype.

Eg: Height, colour.

Genotype :  The genetic constituent of a character i.e in term of alleles written in

symbols Eg: TT and Tt are phenotypically same i.e tall but their
genotype is different.

Dominant :  An allele which expresses itself externally when present in

homozygous or heterozygous conditions.

Recessive :  An allele which expresses itself externally when present in

homozygous condition but remains suppressed in heterozygous
condition.

3
Hybrid :  It is the offspring produced by a cross between the different alleles for
a particular character. e.g., Tt.

Monohybrid cross :  When only one pair of alleles is used during hybridization.

Dihybrid cross :  When two pairs of alleles are used during hybridization.

F1 Generation :  The generation produced by crossing two parental organisms is called

first filial generation.

F2 Generation :  The generation produced by crossing two individuals of F1 generation

is called second filial generation.

MENDEL’S EXPERIMENT
 Mendel worked monohybrid and dihybrid
crosses.
 Mendels experiment involves four steps.
i. Selection- Mendel selected pure line/pure
breading / (true breeding) varieties for 7
contrasting traits. The plants which
produces similar progeny for a particular
character are called pure lines.
ii. Hybridisation - Hybridisation between
two contrasting pairs of parent to raise F1
generation. It is done by cross pollination
between two varieties of plants showing
contrasting characters.
iii. Selfing- Selfing in F1 generation raises F2
generation further selfing raises F3
generation. Selfing is done by self
pollinating the hybrids of F1 generation.
iv. Calculation & conclusion – It is observed
that gametes carry only one allele of a
character and alleles of each character
assort independently.
 In the 1st phase Mendel studied inheritance of a single pair of factor or allele is known as Monohybrids
cross.

4
MENDELISM:
 Mendal conducted his historic experiments with garden Pea (Pisum sativum) and Published his results
in the Annual proceedings of the Natural history society of Brunn in 1865.
 He formulated some principles which are known as Mendelism, these principles are :
i. Principle of Unit characters.
ii. Principle of dominance
iii. Law of Segregation or Purity of Gametes.
iv. Law of Independent assortment (from dihybrid cross)
i. Principle of Unit Characters:
Principle of Unit factor :
 It states that each character of an organism is controlled by a pair of unit factors present in
the body of the organism presently known as alleles (gene). Example : height, skin colour, eye
colour, hair, flower colour, etc.
 Each factor is independent unit of heredity they occur in pair in normal condition.
 Homozygous or pure - TT or tt. Heterozygous or impure or hybrid - Tt. Where T is allele to t
and vice versa. Two side of an character is tall and dwarf. This is called as law of unit
character.
 T or t  Tall or dwarf phenotypic or external. TT or tt  Genotype or genetic make up. An
individual receives one factors for a trait from each parent.
ii. Principle of Dominance :
In a cross between two individuals differing for a pair of
contrasting character, one character appears in F1
generation and the other character does not appear. The
character which appears in the F1 generation is called as
the dominant character and the character which remains
suppressed in F1 generation is called as recessive.
Explanation :
 Mendel had taken homozygous tall (TT) and other
homozygous dwarf (tt) as the parental generation (p)
and crossed them. The plant in the first filial
generation (F1) of the cross are heterozygous type
(Tt). The character which expressed itself in the F1
generation is Tall due to the expression of dominant
factor (gene) 'T' and similarly 't' is the recessive factor
(gene) which can expressed only in homozygous
condition.
 This dominant recessive relationship was established for all 7 pairs of contrasting characters.

5
iii. Law of Segregation:
The allelic factors or genes present together in the
hybrids segregate from one another and are placed
in different gametes in the next generation.
Explanation :
 It is based upon Mendel's monohybrid cross
experiment. Mendel considered tall pea plant
(TT) and dwarf pea plant (tt), where 'T' is the
gene for tallness and "t" is the gene for
dwarfness.
 In the F1 - generation heterozygous tall
plant (Tt), which contain both the genes (T
and t). At the time of gametogenesis these
two genes will segregate and pass on to
different gamete. (Gamete will be either 'T'
or 't' and never both of them). Further, the
two types of gametes 'T' and't' will be
produced in equal number. This indicates
that gametes are always pure and never
hybrid. Hence the law is popularly known
as purity of gametes. After self cross he
found the parental phenotype in the ration
of 3 : 1. According to genetic make up the
plants are of 3 type i.e. pure tall.
Heterozygous tall and dwarf in the ratio
1 : 2 : 1.
 This law is universally applicable to all
organisms.
iv. Law of Independent Assortment :
When two or more pairs of contrasting
characters are taken into consideration in a
cross, each factor, assort or place itself
independently of the other during its passage
from one generation to other.

6
Explanation :
 This is based upon Mendel's dihybrid cross experiment. A cross involving two pairs of contrasting
characters is called dihybrid cross. For example Mendel considered pea plant with round seed and
yellow cotyledon and the other was with wrinkled seeds and green cotyledon. After cross pollination
all the plants of F1 generation were found to be heterozygous round yellow. So the yellow colour is
dominated over the green and round seeds are dominated over wrinkled seed. When F1 plants were
self pollinated in the F2 generation four different types of plants such as Round yellow. Wrinkled
yellow, Round Green and Wrinkled Green seeded plants were observed in the ratio of 9 : 3 : 3 : 1.
This ratio is called dihybrid cross ratio.
Yellow round –1,2,3,4,5,7,9,10,13 – 9/16 Parental Variety
1RR 2Rr 1rr
Yellow wrinkled- 6, 8, 14 – 3/16 1YY 2Yy 1yy
Recombinant variety
Green round – 11, 12, 15 – 3/16
Green wrinkled – 16 – 1/16 Parental variety
Dihybrid phenotypic ratio in F2 generation is 9:3:3:1.
Dihybrid genotypic ratio in F2 generation 1:2:1:2:4:2:1:2:1 1RR 2Rr 1rr
Yellow and green is independent of round and wrinkled. 1YY 2Yy 1yy
Yellow: green = 9+3 : 3+1 = 12:4 = 3:1
Round : Wrinkled = 9+3 : 3+1 = 12:4 = 3:1
So the individual allele still segregate in the same 3:1 ratio obtained for monohybrid cross.
LIMITATION OF INDEPENDENT ASSORTMENT
 Genes or factors located very close to each other on the same chromosome are linked and are not
assorted independently (due to linkage or absence of crossing over).
 It is applicable to the genes or factors located on different chromosome or on same chromosome but
distinctly apart from one another.
BACK CROSS:
 The cross between F1 hybrid with any one of the true breeding(homozygous) parents is known as
back cross.
 There would be two possibilities:
(i) F1 hybrid (Tt) is crossed with homozygous dominant (TT) parent.
All the F2 progeny will be dominant type and no recessive phenotype will be obtained.
50% of the F2 progeny are homozygous tall (TT) and other 50% are heterozygous tall (Tt).
(ii) F1 hybrid (Tt) is crossed with homozygous recessive (tt) .
Both dominant and recessive phenotype will appeared in equal proportion in F2 progeny.
Dominant (Tall) : Recessive (Dwarf) = 1 : 1
 50% of the F2 progeny are heterozygous tall (TT) and other 50% are homozygous dwarf (tt).
 Back cross was devised by Mendel.

7
USE OF BACK CROSS :-
 Back cross is used by plant and animal breeders as a rapid method of purifying/making homozygous
the desired stock.

TEST CROSS:
 The cross between F1 hybrid (Tt) and its homozygous recessive parent is called test cross.
 It is a cross between an organism of an
unknown genotype and a homozygous
recessive organism.
 This is called test cross because it helps to
find out whether the given dominant
phenotype is homozygous or heterozygous.
 A dominant phenotype can be homozygous
dominant (TT) or heterozygous dominant
(Tt).
 After crossing if the F2 gives all dominant
phenotypes then the test cross plant is
homozygous dominant, if the F2 gives equal
proportion of dominant and recessive
phenotype then the test plant is heterozygous
dominant.

8
 The test cross produces offspring of which 50% are heterozygous and the remain 50% are
homozygous recessive.

Ratio :- Monohybrid test cross ratio is 1 : 1.(F1 × Recessive parents)

Dihybrid test cross ratio is 1 : 1 : 1 : 1 (F1 × Recessive parents)

Deviations from Mendelism

INCOMPLETE DOMINANCE (PARTIAL/ MOSAIC DOMINANACE) :

 The law of dominance doesn’t occur universally.
 In F1 offspring the allele of a pair was dominant and
other was recessive. It was not applicable to some
cases where there was incomplete dominance.
 Incomplete dominance is the phenomenon where
none of the two contrasting alleles or factors is
dominant. The expression of the character in a
hybrid or F1 individual is intermediate or a fine
mixture of the expression of the two factors.
 Carl Correns for the first time reported incomplete
dominance in Four O’ clock plant.
 In Four O’clock plant (Mirablilis jalapa ) and in case of Antirrhinum majus( Snapdragon or Dog
flower) the cross between red and white flowers yielded pink flowered F1 hybrid. Here neither the red
nor the white trait was dominant and the hybrid showed intermediate colour.
 Due to incomplete dominance of red over white pink colour flower is produced.
 In this case phenotypic ratio is equal to genotype ratio, i.e., 1 : 2 : 1.

9
 Other examples –
 In Snapdragon Broad leaf red colour flower (BBRR) crossed with narrow leaf white colour flower
(bbrr) due to incomplete dominance F1 hybrid is intermediate leaf pink flower (BbRr).
 Andalusian fowls have two pure forms, black and white. F1 individual appear blue coloured. F2
generation produces three types of fowls – 1 black : 2 blue : 1 white.
CODOMINANCE
 The type of gene interaction in which both the contrasting alleles of a gene express themselves
independently and contribute equally to the phenotype of the hybrid is known as codominance.
 The phenotype is the mixture of the phenotypic traits produced by the either of the alleles in
homozygous condition.
 Allele don’t show dominant-recessive relationship.
 This is exception to Mendel’s law.
Examples :
 AB blood group, MN blood group, sickle cell haemoglobin(HBS & HBA), Coat colour in short horn
cattle.
 The alleles IA and IB of human blood group show codominance by expression of phenotye AB.
 MN blood group system – There are three genotypes MM, NN and MN.
Coat colour in cattle :
 There are two types of pure short horned cattle, red and white. On cross-breeding the individuals of
the F1 generation are found to have roan colour.
MULTIPLE ALLELES
 Genes are known to occur in two alternative forms called alleles but now it is known that more than
two alternate form of gene are present on the same locus.
 More than two alternate forms of a gene present on the same locus are called multiple alleles.
 The inheritance of multiple alleles is known as multiple allelism.
 Multiple alleles are the entire group of alleles present in the population.(the alternative forms of a
gene arise due to mutation in the original or wild gene. )
 An individual possesses only two alleles while the gametes or chromosome carry single allele.
 (There is no crossing over between the members of multiple allele group.)
 Different alleles show codominance, dominance-recessiveness or intermediate dominance amongst
themselves.
 Multiple alleles is seen in case of eye colour of Drosophila(15 alleles), coat colour of rabbits (4
alleles), ABO blood groups in human(3 alleles).

10
  Coat colour of Rabbit (C-dominant, cch, ch, c -Recessive)
Phenotype Genotype
Wild grey CC, Ccch, Cch, Cc
Silver grey CChcch
Light Grey cchch, cch c
Himalayan chch, chc
Albino cc

ABO blood group system in human

ABO blood system in humans is triallelic system that generates six genotypes.
Blood group is inheritable.
Karl Landsteiner (1868-1943) discovered that during blood transfusion, the blood of donor should
match the blood of the recipient.
In case the blood of both does not match, the blood of donor agglutinates on mixing with the
recipient’s blood which may lead to the death of the recipient.
The agglutination in fact takes place in the red blood corpuscles (RBC’s) of the donor.
1. Blood proteins : According to Karl Landsteiner (1900) a Noble Prize winner, blood contains two
types of proteinous substances responsible for agglutination.
(a) Agglutinogen or antigen : It is a protein found on the cell membrane of RBCs.
(b) Agglutinin or antibody : This is the other proteinous substance, found in the plasma of the
blood.
Whenever the blood of a person receives foreign proteins (antigen) his blood plasma starts forming
antibodies in order to neutralize the foreign antigens.
1. Agglutination :
 Two types of antigens are found on the surface of red blood corpuscles of man, known as antigen
A and B.
 These antigens react with two types of antibodies found in the blood plasma known as antibody
— anti-A or a and anti-B or b.
 Agglutination takes place only when antigen A and antibody a or antigen B and antibody b occur
together in the blood.
 Antibody a reacts with antigen A and makes it highly sticky.
 Similarly antigen B in presence of antibody b becomes highly sticky with the result that RBCs
containing these antigens clump causing blockage of the capillaries.
 A few persons have only one antigen, others have both and still others have none of them.
 Agglutination in blood is, therefore, antigen-antibody reaction.

11
2. Types of Blood Groups
 Landsteiner divided human population into four groups based on antigens found in their red blood
corpuscles.
 Each group represented a blood group. Thus, there are four blood groups viz. A, B, AB and O.
 He observed that there was a reciprocal relationship between antigen and antibody.
 A person has antibodies for those antigens which he does not possess.
 For example a person of blood group B does not possess antigen A but his blood plasma has
antibody ‘a’ due to which agglutination with the blood of a person with blood group A occurs.
 Similarly persons with blood group AB possess both the antigens A and B but their blood plasma
does not possess any of the antibodies.
 In the same way person having blood group A does not possess antigen B but antibody ‘b’ is
found in his blood plasma.
 Persons with blood group O possess none of the antigens and that is why their blood possesses
both the antibodies ‘a’ and ‘b’.
Inheritance of Blood Groups
 There are three genes (instead of two) which control blood groups.
 These are known as multiple alleles. The three genes (or alleles) are located on the same locus on
homologous chromosomes.
 A person can have only two of the three genes at one time which may be either similar or dissimilar.
 These genes control the production of blood group (antigen) in the offsprings.
 A gene producing antigen A is denoted by IA, gene for antigen B by IB and the gene for the absence of
both antigens by IO.
 Letter I (Isohaemagglutinogen) is a basic symbol for the gene.
 It is sometimes represented by L (for Landsteiner). Based on this, six genotypes are possible for four
blood groups in human population.
IA produces A protein
IB produces B protein.
IO will not produce any protein. (IA = IB > IO)
IAIB produces both A and B protein.
 Both the alleles are able to express themselves forming antigens A and B. Such alleles which are able
to express themselves in the presence of each other are called Codominant.
 Gene IA and IB are both dominant over IO, but not over each other.
 The blood groups are inherited in the simple Mendelian fashion. Thus offsprings with all four kinds
of blood groups are possible if the parents are heterozygous for blood groups A and B.

12
 In the same way a cross between, parents heterozygous for blood group A can have their offsprings of
blood group A and O both.
 If the parents are heterozygous for group B, their genotype will be IB IO and the offsprings can have
blood group B and O.
 When the parents have blood group O, their offsprings will be of blood group O only.
 In case of parents with blood groups A, B, AB and O, the offsprings will also be of blood groups A,
B, AB and O, respectively.
 If we know the blood groups of a couple, the blood groups of their children can easily be predicted.

Phenotype
Genotype Nature of Gene Protein Antigen
(Blood type)

IA IA Homozygous dominant
A A
IA IO Heterozygous

IB IB Homozygous dominant
B B
IB IO Heterozygous

AB IA IB Codominant Both A and B

O IO IO Homozygous recessive Neither A nor B

QUALITATIVE INHERITANCE/ MONOGENIC INHERITANCE :

 The Mendelian pattern of inheritance which shows complete dominance of dominant allele and is
controlled by a single gene is is called Monogenic inheritance or qualitative inheritance.
QUANTITATIVE INHERITANCE/POLYGENIC INHERITANCE:
 In another pattern of inheritance expression of trait is controlled by more than one gene pair.
 All genes have additive or cumulative effect.
 These are measurable phenotypic traits which don’t have two distinct contrasting conditions.
 Each gene has a certain amount of effect or each gene contributes to a small degree.
 Wide spectrum of phenotypes.
 This type of inheritance is called quantitative inheritance or polygenic inheritance.
 This type of inheritance is shown by seed colour in wheat and skin colour in human.
 KERNEL /SEED colour in wheat (Nilsson- Ehle, 1908)
 A red kerneled crossed with white kerneled. F1 generation redness didn’t appear in pure.

13
 F2 generated shows five types of phenotypes.
Sl. No. Name of colour Ratio
1 Red (extreme) 1/16
2 Dark red 4/16
3 Medium red 6/16
4 Light red 4/16
5 White 1/16
 Later it was found that the kernel colour in wheat is determined by two pairs of genes as and recessive
alleles. Results of this polygenic inheritance is depicted in:

SKIN COLOUR IN HUMAN: (Davenport,1910)

 Skin colour in human is controlled by three genes present in different loci. The F2 generation shows
seven types of phenotypes in following ratio.
Very Dark : Dark : Fairly Dark : Intermediate : Fairly Light : Light : White
1 : 6 : 15 : 20 : 15 : 6 : 1

14
PLEIOTROPY
 From the study of Mendel’s laws, we have learnt that one factor or one gene is responsible for the
expression of one character.
 However these are also such cases where one gene influences more than one phenotypic character.
 Thus, the ability of a gene to have many effects is known as pleiotropy.
 The term pleiotropy is derived from the Greek words pleio, which means “many” & tropic, which
means “affecting”.
 Genes that affect multiple phenotypic traits are called peliotropic genes.
 The common example of pleiotropy in man is a hereditary disease called Sickle-cell anaemia.
 A recessive gene causes this disease. In homozygous condition the gene causes production of an
abnormal haemoglobin. As a result the shape of red blood cell containing it becomes sickle shaped &
distorted.
 However in heterozygous condition, the individuals possess both normal & abnormal haemoglobin &
& have mild anaemia.
 In Drosophila gene responsible for the size of wing also affects the eye colour, shape of spermathera
and position of dorsal bristles.
CHROMOSOMAL BASIS OF INHERITANCE / CHROMOSOME THEORY OF INHERITANCE
 Sutton and Boveri working independently proposed chromosome theory of inheritance in1902. They
showed parallelism between the chromosomes and Mendelian factors (called genes).
 Chromosome is known as hereditary vehicles which carries genes from generation to generation.
 Gene is known as hereditary unit.
Parallelism Between Chromosomes and Genes
Chromosomes Mendelian Factors(Genes)

 Chromosomes occur in homologous pairs  Mendelian factors also occur in airs in

in the diploid organisms. diploid organisms.

 During gamete formation (meiosis)  Mendelian factors also segregate during

homologous chromosomes separate. gamete formation.

 Each gamete receives only one of the two  Each gamete receives only one of the
chromosomes of a homologous pair. two alternative factors.

 After fertilization in a diploid cell  After fertilization, Mendelian factors

chromosomes again occur in two sets one also occur in pairs, one each contributed
contributed by father and the other by by father and mother.
mother.

15
 On the basis of above similarities between Mendelian factors and Chromosomes they proposed
Chromosome theory of inheritance.
 According to this theory “chromosomes are the carriers of the hereditary information, possess
Mendelian factors (genes), segregate and assort independently during transmission from one
generation to the next.”
 It is the chromosome not genes (factors) which segregate and assort independently during meiosis and
recombine at the time of fertilization in the zygote.
 Thus chromosomes are vehicles of inheritance or physical basis of heredity. They possess mendelian
factors or genes.
 The gametes carry haploid or one set of chromosomes. They carry hereditary information in the form
of genes.
 The chromosome theory of inheritance was confirmed by T.H. Morgan in 1933.

Gene – The Fundamental Unit of heredity

 Gene is the fundamental physical and functional unit of heredity.
 The word Gene is introduced by Johannsen in 1909 for a single unit of heredity occupying a locus in
a chromosome.
 A gene is a unit of inheritance which is carried from a parent by a gamete in a chromosome and
controls the expression of a specific character in the young one in cooperation with its allele, other
genes and environment(Classical definition of Gene).

16
 A gene (i) is a segment of nucleic acid, usually DNA, rarely RNA; (ii) has a unique sequence of
nucleotide base pairs; (iii) codes for a specific polypeptide, or one rRNA, or one tRNA, or a
polyprotein or has a regulatory role ; (iv) can undergo crossing over and mutation at times; and (v)
may have continuous or split information.(Modern concept of Gene)
Functional Sub-units of Gene :
 Benzer (1955) concluded that there are three sub-divisions of a gene, i.e., recon, muton and cistron.
1. Cistron – unit of function :
2. Recon – unit of recombination
3. Muton – Unit of mutation and the smallest unit of cistron.
 Thus a gene of cistron can consist of several recons and a recon of several mutons. A recon and a
muton may be of the same size, and in such a case recon may not consist of several mutons.
CHROMOSOMAL BASIS OF SEGREGATION
 The segregation of chromosome and distribution of alleles during anaphase I and distributed
randomly into gametes.
 Thus each gamete carries one of the allele, on fertilization the diploid number of chromosomes is
restored showing 3:1 phenotypic and 1:2:1 genotypic ratio.
CHROMOSOMAL BASIS OF INDEPENDENT ASSORTMENT
 Factors or alleles of one pair segregate independently the allele of the second pair.
SALIENT FEATURES OF CHROMOSOMAL THEORY
 Both sperm and ova must carry all hereditary characters, as they bridge between one and the next
generation.
 Both sperm and egg contribute equally in the heredity of offspring, which is contained in nucleus.
 Chromosomes present in nucleus must carry hereditary traits. Each chromosome or its pair has a
definite role in development of an individual.
 Chromosomes are found in pairs like Mendelian alleles.
 The two alleles are located on homologous sites on homologous chromosomes.
 The sperms and eggs have haploid sets of chromosome which fuses to restore diploid state.
 Homologous chromosomes synapse during meiosis and get separated to pass into different cells that
forms the basis for segregation and independent assortment.
 The chromosomes retain their number and structure throughout the life of an individual and from
generation to generation.
 Both chromosomes and genes neither get lost nor mixed, rather behave as units.

17


18
 LINKAGE
 The linkage is defined as the tendency of two or more genes to remain together during the process
of inheritance.
 The phenomenon of linkage was discovered by Batson and Punnet (1906) in sweet pea.
 Morgan defined linkage as “all the genes present on a chromosome have the tendency to maintain
original combination and to enter one and the same gamete.
 The genes located on the same chromosome are being inherited together are known as linked genes,
and the characters controlled by these are known as linked characters.
 All those genes which are located in the single chromosome form one linkage group.
 The total no. of linkage group in an organism corresponds to the no. of chromosome pairs, for
example there are 23 linkage group in man, 4 in Drosophila and 7 in Sweet Pea.
 There are two aspects of linkage are coupling and repulsion.
 The tendency of two alleles to remain together coming from the same parent and gets inherited
together is called coupling and the tendency of two alleles coming from two different parents, enter
different gametes and get inherited separately and independently is called repulsion.
Arrangement of linked genes :
Two linked genes in a heterozygous individual have two types of arrangements.
(i) Cis arrangement
 The dominant genes of both pairs are located in one member of the
chromosome pair and their recessive alleles are located in the other
chromosome of the pair. This arrangement is known as cis-
arrangement.
(ii) Trans arrangement
 The dominant gene of one pair and the recessive gene of other pair
are located in one chromosome of the pair and the recessive gene
of the first pair and dominant gene of the second pair are located in
the second chromosome of the pair. This arrangement is known as
trans-arrangement.
TYPES OF LINKAGE :
 Linkage is of 2 types i.e., (a) Complete linkage,
(b) Incomplete linkage
(a) Complete Linkage(Non Cross Over or Parental Type of Gametes) :-
 When linked genes or parental combination of characters are inherited together through two or
more generation in a continuous and regular fashion, the linkage is known as Complete Linkage.
It is rarely found in case of male Drosophila, female silkworm moth and few others.
 There is no break in the chromosomes.
 It produces only parental combinations.
 No cross over gametes are produced.
Example :
 Complete linkage is best illustrated by one of the Morgan's experiment on Drosophila.

19
 For example a pure breeding red eyed and normal winged female Drosophila (PV/PV) is crossed
with pure breeding purple eyed and vestigial winged male fly (pv/pv). F1 generation is red eyed
and normal winged showing that both the traits are dominant.
 F1 hybrid males are test crossed with purple eyed and vestigial winged females. The offspring
were only of two types, red eyed normal winged and purple eyed vestigial winged in the ratio of 1 : 1.
There was no crossing over (non-parental combination) indicating that the linkage in male
Drosophila was complete.
 No recombinants are formed because linkage is complete and no crossing over occurs.

20
(b) Incomplete Linkage (Cross over or Recombinants) :-
 It is the tendency of linked genes to separate and form recombinant types besides the parental
type due to crossing over. This is due to breakage of chromosome during crossing over.
 Crossing over occurs even if the genes are located very close to one another.
 It produces parental (more than 50%) and recombinant combinations (less than 50%)
 Recombinants or cross over types of gametes are produced.
 The strength of the linkage is thus dependent on the distances between the genes of a
chromosome.
Example :
 Hutchinson crossed one variety of maize having coloured and full seeds with another variety
having colourless and shrunken seeds.
 All the F1 plants produced coloured and full seeds.
 But, in a test cross, when F1 females are crossed with double recessive male, 4 types of hybrid
seed produced.

Factors affecting Linkage :

 The following factors affect the linkage of gene.
i. Distance : Strength of linkage between the two genes is inversely proportional to the distance
between them. Strength of linkage  1/Distance.
ii. Age : With advancing age, the chances of crossing over lessen, increasing the strength of linkage.

21
 iii. Sex : The sex having heteromorphic chromosomes has stronger linkage groups as compared to the
other sex, e.g., male Drosophila.
iv. Temperature : Rise in temperature increases the chance of chiasma formation, decreasing the
strength of linkage.
v. X-rays : Exposure to X-rays reduce the strength of linkage and increases the frequency of
crossing over.
vi. Chemicals : A number of chemicals changes the strength of linkage and frequency of crossing
over.
SIGNIFICANCE OF LINKAGE :
i. Linkage plays an important role in determining the nature of scope of hybridization and selection
programmes.
ii. Linkage reduces the chance of recombination of genes.
iii. It helps to hold the parental characteristics together.
iv. Linkage reduces the possibility of gametic variability.
v. It helps in maintaining the valuable traits of a newly developed variety.
vi. It disallows the plant and animal breeding to combine all the desirable traits in a single variety.
Difference between Complete Linkage & Incomplete Linkage
Complete Linkage Incomplete Linkage
1. Genes are completely linked. 1. Genes are not linked
2. No recombination occurs 2. Recombination may occur.
3. Genes are usually located very close to each 3. Genes may be little far from each other.
other.

CROSSING OVER
 Crossing over is defined as an interchange of corresponding chromosomal parts between chromatids
of a homologous pair of chromosomes resulting in a recombination of genes.
 Crossing over occur during early prophase of 1st meiotic division at pachytene stage.
 The term crossing over was introduced by Morgan and Cattell.

22
Example :
 In a cross between Grey long female with black vestigial male, F1 offspring result parental
combination i.e. grey long and black vestigial.
 In F2 generation if a female F1 hybrid for greyBody and long wing is black crossed with double
Recessive male having black body and vestigial wing, 2 new combinations are seen in F2 generation
i.e. grey body and vestigial wings and black body with long wings.
 Old combinations constitute 83% and new combinations constitute 17%.

Mechanism of Crossing Over/Modern Breakage Reunion Theory :

 Coupling and repulsion hypothesis explains the mechanism of crossing over.
 The various steps are :
i. Chromosomes replicate in the interphase before meiosis. They however, appear unsplit due to
presence of nucleo-protein core between their chromatids.
ii. During zygotene of meiosis I, homologous chromosomes undergo pairing or synapsis.
iii. In pachytene stage, chromatids break and exchange of segments between non-sister chromatids of
a homologous pair of chromosomes occurs and is called crossing over.
iv. It leads to recombination of genes due to their reshuffling.

23
TYPES OF CROSSING OVER
 Crossing over may be of following types :
i. Single crossing over: Only one chaisma is formed.
ii. Double crossing over: When crossing over occurs at 2
points, called double crossing over.
iii. Multiple crossing over: When more than chaismata are
formed, called multiple crossing over.
FACTORS INFLUENCING CROSSING OVER:
i. Distance: Frequency of crossing over is directly proportional to the distance
ii. Age: Crossing over is generally decreases with advancing age.
iii. Temperature: increases in temperature increases frequency of crossing over.
iv. Location: Gene located near centromere and both the ends reduce crossing over.
v. Interference: One crossing overt lesson the chance of another crossing over.
vi. Mutation: Mutation rerduces crossing over in all chromosomes of Drosophila.
vii. X-ray effect: X-ray irradiations increase crossing over near centromere.
viii. Inversion: In a given segment of chromosome crossing over is suppressed due to inversion.
SIGNIFICANCE :
i. It provides direct proof for the linear arrangement of genes.
ii. It gives rise to new combination of genes and variation in offspring.
iii. It has led to construction of linkage map or genetic map of chromosomes.
iv. It play important role in the field of plant breeding and animal breeding.
v. It increases variability which is useful for natural selection.
DIFFERENCES BETWEEN LINKAGE AND CROSSING OVER:

Sl. Sl.
Linkage Crossing Over
No. No.

It is tendency of genes on a chromosome to It is exchange of genes/chromosomal parts to

1. remain together and passed as such in next 1. break established linkages and formation of new
generation. linkages.

2. It brings more parental types. 2. It produces recombinations.

S tr en g th o f l i n k ag e b etw een tw o g en es
Frequency of crossing over between two genes
3. i ncr eases i f they ar e cl o sel y p l aced o n a 3.
decreases if they are closely placed.
chromosome.

4. With increase in age, linkage increases. 4. Crossing over decreases.

It is the source of variations for producing new

5. It helps to maintain a newly improved variety. 5.
varieties.

24
  Variation are either continuous or discontinuous.
 Continuous (fluctuating) variation are minute.
They fluctuate on the either side of a mean or
average for the species. Continuous variations are
typical of quantitative characteristics. They can
increase the adaptability of the race but cannot form new species. It is of two types.
(i) Meristic Variation: It includes variation in number of parts of an organism.
Eg: number of tentacles in Hydra, number of grains in a ear of wheat.
(ii) Substantive variation: Variation in form, size, shape, weight and colour.
Eg: Height, eye colour, shape of nose and ear, length of finger, hair
 Discontinuous variation: These are sudden and large changes i.e., mutation. These variation are
responsible for formation of new species and organism thus formed is called mutant.
(i) Meristic variation: These affect number of parts e.g., polydactyl in humans.
(ii) Substantive variations: These influence shape, colour, size etc., e.g., hairless cat, short
legged Ancon sheep, Hornless cattle etc.
Causes of Variation :
Causes of Somatic Variation:
i. Environmental Factors such as medium, light, temperature, nutrition, water etc.
ii. Use and disuse of organs.
iii. Conscious effort.
Causes of Germinal Variation:
i. Segregation and independent assortment of chromosomes at the time of gamete or spore
formation. ( 2n types of gametes where n is the no. of pairs of chromosomes)
ii. Crossing over during meiosis.
iii. Chance combination of chromosomes during fertilization.
(2n X 2n possible types of combinations )
iv. Chromosomal aberrations.
v. Change in chromosome numbers (polyploidy).
vi. Gene mutation.
Significance of Variation:
 They make the organism better fitted to changing environmental conditions.
 Essential in struggle for existence.
 Produce new trait in organism and provide raw material for evolution.
 Variations allow breeders to improve races of useful plants and animals for increases for increased
resistance, better yield, quicker growth and lesser input.


QUESTIONS 25FOR PRACTICE

 MULTIPLE CHOICE QUESTIONS:
1. Which term was used by Mendel to represent hereditary unit?
(a) Gene (b) Allele (c) Factor (d) Element
2. Gregor Mendel was born in:
(a) Britain (b) Austria (c) Russia (d) Czechoslovakia
3. What are the gene pair signifying a trait called?
(a) Hybrid (b) Phenotype (c) Pure-line (d) Alleles
4. Mendel studied seven contrasting characters for his breeding experiments with Pisum sativum.
Which of the following charactes Mendel did not use?
(a) Pod shape (b) Plant height (c) Leaf shape (d) Pod colour
5. How many pairs of contrasting characters in pea pod were chosen by Mendel?
(a) Two (b) Three (c) Four (d) Seven
6. The off springs of mating between two pure strains are called as:
(a) F1 (b) F2 (c) F3 (d) None
7. In Mendelian hybrid experiment, F1 plants are
(a)heterozygous (b)Homozygous (c)Hemizygous (d)Dizygous
8. What was the phenotypic ratio in F2 of Mendelian monohybrid cross?
(a) 1:1 (b) 2:1 (c) 3:1 (d) 9:3:3:1
9. What is the genotypic ratio in F2 of Mendelian monohybrid cross?
(a) 1:1 (b) 3:1 (c) 1:2 (d) 1:2:1
10. When a hybrid tall pea is cross fertilized by a pure dwarf the ratio of tall to dwarf grown from the
seeds will be:
(a) 3:1 (b) 2:1 (c) 1:3 (d) 1:1
11. Mendelian recombination’s are due to:
(a) Independent assortment of genes (b) Linkage of genes
(c) Mutation (d) dominance
12. What will be the percentage of tall plants with red flowers in a cross between TTRr  ttrr, when T
stands for tall dominant and R for red dominant?
(a) 25% (b) 50% (c) 75% (d) 100%
13. In F2 generation of a monohybrid cross in what ratio the recessive character appears?

26
 (a) 1/2 (b) 1/4 (c) 3/4 (d) 1
14. Which of the following ratio represents a test cross?
(a) 3:1 (b) 9:3:3:1 (c) 1:2:1 (d) 1:1:1:1
15. Find out the genotype(s) of the offspring of the cross AaBb  aabb
(a) AaBb (b) Aabb
(c) AaBb and aabb (d) AaBb, Aabb, aaBb and aabb
16. A cross between AaBB  aaBB produces the offspring with genotypes:
(a) 1 AaBB : 3aaBB (b) 3 AaBB : 1aaBB
(c) 1 AaBB : 1aaBB (d) All AaBB
17. Two pea plants were subjected cross pollination. Of the 183 plants produced in the next
generation, 94 plants were found to be tall and 89 plants were found to be dwarf. The genotype of
the two parental plants are likely to be:
(a) TT and tt (b) Tt and Tt (c) Tt and tt (d) TT and TT
18. A couple with blood groups A and B may have children with blood groups:
(a) A &B (b) AB (c) O (d) A,B,AB,O
19. An F2 genotypic ratio of 1:4:6:4:1 instead of 9:3:3:1 indicates:
(a) Qualitative inheritance (b) Quantitative inheritance
(c) Incomplete dominance (d) Multiple allelism
20. Organisms phenotypically similar but genotypically different are:
(a) Heterozygotes (b) Homozygotes
(c) Monozygotes (d) Multizygotes
21. What type of genotypes are expected when a plant with AABb genotype is selfpollinated?
(a) 3AABB : 1 AABb (b) 3AABB: 1 AAbb
(c) 1AABB:1AAbb (d) 1AABB : 2AABb:1AAbb
22. In heritance of ABO blood group system is an example of:
(a) Multiple allelism (b) Partial domianance
(c) Epistasis (d) Dominance
23. Five out of twenty plants obtained by selfing a red flowered plant were having white flowers. This
is an indication that plant is:
(a) Homozygous (b) Heterozygous (c) Homogenous (d) Heterogenous
24. When heterozygous red (dominant) flower is crossed with white flower the progeny would be:

27
 (a) 350 red : 350white (b) 450 red : 250 whtie
(c) 380 red : 320 white (d) None of these
25. In ABO blood groups how many phenotypes are found?
(a) 6 (b) 8 (c) 1 (d) 4
26. When a hybrid tall pea is cross fertilized by a pure dwarf the ratio of tall to dwarf grown from the
seeds will be:
(a) 3:1 (b) 2:1 (c) 1:3 (d) 1:1
27. The percentage of ab gametes produced by Aa Bb parent will be:
(a) 12.5 (b) 25 (c) 50 (d) 75
28. The type of cross between parents differing in only one character is called:
(a) Dihybrid cross (b) Monohybrid cross (c) Reciprocal cross (d) Trihybrid cross
29. Two allelic genes are located on:
(a) The same chromosome (b) Two homologous chromosomes
(c) Two non-homologous chromosomes (d) Any two chromosomes
30. Dominant gene for tallness is T and for yellow colour is Y. If a plant hetergous for both the traits
is selfed, then the ratio of pure homozygous dwarf and green offsprings would be:
(a) 1/4 (b) 4/16 (c) 3/16 (d) 1/16
31. In pea, round seed and yellow colour of cotyledon (RRYY) are dominant over wrinkled seed and
green colour of cotyledons (rryy): What will be the phenotypic ratio of the offspring from a cross
between RrYy × rryy ?
(a) 9:3:3:1 (b) 3:1 (c) 1:2:1 (d) 1:1:1:1
32. If a dwarf plant was treated with gibberellic acid, it grew as tall as the pure tall pea plant. If this
treated plant is crossed with a pure tall plant, then the phenotypic ratio of F1 generation is likely to
be:
(a) 50% dwarf and 50% tall (b) 75% tall and 35% dwarf
(c) All dwarf (d) All tall
33. To determine heterozygosity or homozygosity, a plant must be crossed with:
(a) Recessive parent (b) Dominant parent
(c) Homozygous dominant (d) Heterozygous dominant
34. A test cross distinguishes between:
(a) Two homozygous forms
(b) A homozygous dominant and the heterozygous form
(c) Two heterozygous forms
(d) A homozygous recessive and the heterozygous form.

28
35. In order to find out the different types of gametes produced by a pea plant having the genotypes
AaBb, it should be crossed to a plant with genotype.
(a) AABB (b) AaBb (c) aabb (d) aaBB
36. Discontinuous variations are:
(a) Acquired characters (b) Mutations
(c) Essential features (d) Non-essential features
37. The experimental plant material used by Mendel was :
(a) Cow pea (b) Garden pea (c) Wild pea (d) Sweet pea
38. Which of the following characters is not among the seven characters considered by Mendel for his
hybridization experiments ?
(a) Seed colour (b) Pod shape (c) Flower position (d) Flower shape
39. Which law Mendel would not have proposed, if the phenomenon of linkage was known to him ?
(a) Law of unit character (b) Law of dominance
(c) Law of segregation (d) Law of independent assortment
40. The number of genotypes produced in F2 generation in Mendel’s monohybrid cross was :
(a) 1 (b) 2 (c) 3 (d) 4
41. In which of the crosses, half of the offspring show dominant phenotype ?
(a) Tt × Tt (b) TT × tt (c) Tt × tt (d) TT × TT
42. Two alletic genes are located on the :
(a) Same chromosome (b) Two homologous chromosomes
(c) Two non-homologous chromosomes (d) Any two different chromosomes
43. Red (RR) Antirrhinum is crossed with white (rr) one. The F1 hybrid is pink. This is an example of :
(a) Complete dominance (b) Co-dominance
(c) Incomplete dominance (d) Complete recessive
44. In a dihybnd cross, in F2 generation, the parental types are far greater in number than the
recombinants. This is due to :
(a) Linkage (b) Incomplete dominance
(c) Multiple allelism (d) Complete dominance
Correct the statement:
1. The position of a gene on the chromosome is definite which is called allele.
2. The trait which is lost in F1 during inheritance is called recessive.
3. Correns and De vries proposed the chromosome theory of heredity.
4. Individuals with ‘AB’ blood group can donate their blood to individuals with A, B, AB and O
blood groups.

29
5. The cross in which the individual with dominant trait it crossed with an individual with recessive
trait to know the genotype of the dominant one is back cross.
6. Genetic constituent of an organism inherited from its parents is phenotype.
7. Skin colour in human is an example of qualitative inheritance.
8. Inheritance of a trait determined by cumulative effect of two or more non-allelic gene pairs is
called quantitative inheritance.
9. To determine heterozygosity or homozygosity, a plant must be crossed with a dominant parent.
10. Monohybrid phenotype ratio of incomplete inheritance is 3:1.
11. The process of transmission of characters through generations is, know as variation.
12. In Mendel’s monohybrid cross, the dwarf phenotype is always homozygous.
13. In Mendel’s dihybrid cross in F2 generation nine phenotypes are produced.
14. The phenomenon of linkage disproved the principle of independent assortment.
15. In a test cross, always dominant parent is used.
16. The distance between genes in a constructed gene map is expressed as Mendel unit.
Fill in the blanks:
1. Principle of _____________________ was established by Mendel’s monohybrid cross.
2. The law derived from Mendel’s dihybrid cross is __________________.
3. A plant with Rr genotype is crossed with a platn with rr genotype, the ratio of Rr and rr genotype
will be _____________________ in the next progeny.
4. ______________________ is the physical basis of heredity.
5. AB and Ab types of gametes are expected from a pattern with genotype ___________________.
6. Position of a gene on the chromosome is fixed which is called_______________________.
7. _________________ – ___ individuals produce genetically different gametes.
8. The checker board used in genetic crosses is called __________________.
9. 1:2:1 phenotypic ratio represents _______________________________.
10. The trait which remains hidden in the heterozygotes is called ___________________________.
11. Chromosome theory of heredity was proposed separately by ______ and _____________.
12. The pigment responsible for skin colour of humans is ________________________.
13. Inheritance of a trait determined by cumulative effect of two or more non-allelic gene pairs is
called __________________.
14. A plant with genotype AaBbCc will produce ________________________ number of gametes.
15. ABO blood group of humans is determined by ________________________ alleles.
16. Suddenly appearing large and stable variations in organisms is called __________.
17. A cross between parents differing in single character is called ____________.

30
18. Genotypic ratio in F2 offspring of a monohybrid cross is ________________.
19. When F1 hybrid is crossed with an individual having genetic composition of recessive parent it is
called _________________.
20. Monohybrid cross in F2 generation yields …………… number of phenotypes.
21. Monohybrid cross in F2 generation yields ……………… number of genotypes.
22. The name of scientist often coined with linkage is ……………
23. Genotype of a plant showing the dominant phenotype can be determined by ……………. cross.
24. In a cross between AaBB and aaBB, the genotypic ratio in Fl generation will be ………….
Express in one word:
1. Process of transmission of characters from generation to generation.
2. The science concerned with the transmission.
3. Differences in the inherited traits among individuals of a species.
4. An inherited factor that determines a biological characteristics.
5. Dominant genes could not have complete dominance over recessive genes.
6. Individuals having two different allelomorphs in two corresponding loci of pair chromosomes,
each donated by one of the parents.
7. A cross between two genetically dissimilar individuals.
8. A pair of untrusting genes.
9. A cross between F1 and recessive parent.
10. Identical genes for a given character.
11. The term for 1:2:1 ratio.
12. The two individual genes in a particular gene pair.
13. The phenomenon of expression of one of the two traits, even though the factors for both are
present.
14. The cross in which the individual with dominant trait it crossed with an individual with recessive
trait to know the genotype of the dominant one.
15. A cross in which the F1 hybrid is crossed with any one the parent.
16. A condition where both the alleles of a particular gene pair are identical.
17. A condition where the alleles of a particular gene pair are different.
17. Externally manifested characters of an organism.
18. Genetic constituent of an organism inherited from its parents.
19. The trait which is expressed in the heterozygous condition.
20. The trait which remains hidden in the heterozygous condition.

31
21. A pair of Mendelian factors (genes) that appear at a particular location on a particular
chromosome and control the same characteristic.
22. Phenomenon where in the heterozygous condition an intermediate phenotype is observed.
23. The phenomenon of a single gene contributing to multiple phenotypic traits.
24. Genes which move together and do not show independent assortment.
25. A cross between the F1 hybrids with any one of the homozygous parents

BUREAU’S QUESTIONS

GROUP – A
Multiple Choice Type Questions.
01. Who is known as the “Father of genetics” ?
(a) Mendel (b) Sutton (c) Morgan (d) Bateson
02. The experimental material of Mendel was :
(a) Cow Pea (b) Garden Pea (c) Wild Pea (d) Sweet Pea
03. The number of pairs of contrasting characters chosen by Mendel is :
(a) 2 (b) 3 (c) 7 (d) 4
04. The diploid chromosome number of Garden Pea is 14; how many linkage groups are there ?
(a) 14 (b) 2 (c) 7 (d) 10
05. In Mendel’s monohybrid and dihybrid crosses the F1 were always :
(a) homozygous (b) dizygous (c) heterozygous (d) hemizygous
06. A cross between F1 and the recessive parent is known as :
(a) test cross (b) hybrid cross (c) double cross (d) back cross
07. Which of the followings is a test cross ?
(a) Tt × Tt (b) tt × tt (c) TT × Tt (d) Tt × tt
08. Alleles evolved due to :
(a) Crossing over (b) Mutation (c) Linkage (d) Segregation
09. If a pure red flower plant is crossed with pure white flower plant and the offsprings are all pink
then it is a case of :
(a) Complete dominance (b) Co-dominance
(c) Incomplete dominance (d) None of these

32
10. Quantitative inheritance depend upon :
(a) Number of dominant genes (b) Multiple alleles
(c) Number of linkage groups (d) Cross over frequency
11. Continuous variations are seen in :
(a) Polygenic inheritance (b) Co-dominance
(c) Multiple allelism (d) Incomplete dominance
12. ABO blood groups in human beings is an example of :
(a) Multiple alleles (b) Incomplete dominance
(c) Quantitative inheritance (d) None
13. Skin colour inheritance in human is an example of :
(a) Co-dominance (b) Incomplete dominance
(c) Quantitative inheritance (d) Multiple alleles
14. Out of the following F2 ratios which is the case for quantitative inheritance :
(a) 9 : 3 : 3 : 1 (b) 13 : 3 (c) 1 : 4 : 6 : 4 : 1 (d) 12 : 3 : 1
15. A cross between the Fl hybrid and the recessive parent gives the ratio :
(a) 3 : 1 (b) 1 : 1 (c) 2 : 1 (d) 4 : 1
16. The two crosses between the same pairs of genotypes or phenotypes in which the sources of
gametes are reversed are known as :
(a) Reciprocal crosses (b) Test crosses
(c) Reverse crosses (d) Double crosses
Fill in the blanks:
01. The two genes occupying the same loci on a pair of homologous chromosomes are known as
_______.
02. The allele which is expressed in both homozygous and heterozygous conditions is known as
________.
03. The number of different types of gametes produced by the heterozygote with the genotype
AABbCc is _____________.
04. ________________ explained the kernel colour inheritance in maize.
05. __________________ will be the genotype of father with blood group B if the child is O.
06. The two alleles of genes are located on two _________ chromosomes.

33
 GROUP – B
Short Answer Type Questions:
1. Write short notes on:
(a) Hybrid
(b) Incomplete dominance
(c) Monohybrid ratio
(d) Co-dominance
(e) Principle of dominance [2014]
(f) Multiple alleles
(g) Law of independent assortment
(h) Back cross
(i) Princi
(j) ple of segregation
02. Differentiate between:
(a) Monohybrid and dihybrid cross
(b) Incomplete and complete dominance
(c) Phenotype and genotype
(d) Hybrid and Cybrid [2014]
(e) Homozygous and Heterozygous
(f) Back Cross and Test Cross [2013]
(g) Dominant & Recessive
03. Correct the statement if required by changing the underlined word.
(a) Monohybrid cross yields two number of genotype. [2014]









34
Short notes on: MODEL ANSWER
1. Variation
 Differences observed between the individuals of a species is called variation.
 It may be either due to effect to environment or due to the change in genetic make-up of the
organism. The variations caused due to genetic alternation are heritable.
 Variations are either continuous (called fluctuation) or discontinuous.
 Variation is an important source for evolution.
2. Chromosome theory of inheritance
 Chromosomal theory of inheritance was proposed separately by Sutton and Bovery in 1902.
This theory states that-
i. Mendelian factors (subsequently known as genes) are located on chromosomes.
ii. Each pair of Mendelian factors is carried by a pair of homologous chromosomes.
iii. Segregation of factors is due to separation of homologous chromosomes during meiosis.
iv. Independent assortment of factors is due to independent action of spindle and random
alignment of homologous chromosomes.
3. Dihybrid Cross
 A cross between two varieties in which two characters are considered is called dihybrid cross.
 Here both the dominant traits of two characters are expressed in F1 hybrid.
 The F2 progeny show 9:3:3:1 phenotypic ratio and 1:2:1:2:4:2:1:2:1 genotype ratio.
 For example, when a tall plant with red flowers is crossed with a dwarf plant with white
flowers, all the F1 hybrids become tall with red flowers. On selfing they produce 9 tall-red : 3
tall-white : 3 dwarf-red : 1dwarf-white.
4. Quantitative Inheritance:
 The pattern of inheritance where the expression of trait is controlled by more than one non
allelic gene pairs is called quantitative inheritance.
 In quantitative inheritance each dominant allele of such gene pairs contributes only a part of
total trait.
 Gradation of phenotypes is determined by the number of dominant genes present in the
organism.
 Quantitative characters are measurable characters and are generally influenced by
environmental factors.
 In case of human skin colour, seven different types are seen which is controlled by three pairs
of polygenes.

35
Differences Between Genotype & Phenotype
Sl. Sl.
GENOTYPE PHENOTYPE
No. No.
1. Genotype is the genetic make up of 1. Phenotype is the morphological expression of
organisms which determines the character. characters.
2. Study of genotype requires the genetic 2. Phenotype are the studied by visual
behaviour of their Ancestors. observations.
3. Environment cannot bring small variations 3. Phenotype may change under the effect of
in genotype environment.
4. Organisms of different genotypes may 4. Organisms with different phenotypes have
have same phenotype i.e. TT or Tt for usually different Genotypes.
tallness.
5. Genotypically the F2- mendelian ratio is 5. Phenotypically the ratio for F2 generation is
1 : 2 : 1 for monohybrid Cross. 3 : 1.

Differences Between Homozygous & Heterozygous

Sl. Sl.
HOMOZYGOUS HETEROZYGOUS
No. No.
1. In homozygote both the alleles of a particular 1. In heterozygote both the alleles of a particular
gene pair Are similar i.e. TT and tt. gene pair are different i.e. Tt
2. Here both alleles are either dominant or 2. Here one alleles always dominant and other is
recessive. Always recessive.
3. The organism is always pure for that 3. Organism is a hybrid For that character.
character.
4. Only one type of gamete is produced, TT 4. It (Tt) produces both type of gametes i.e or T
produces T gamete and tt produces t gamete. or t.

Differences Between Monohybrid Cross & Dihybrid Cross

Sl. Sl.
Monohybrid Cross Dihybrid Cross
No. No.
1. A cross in which inheritance of one 1. A cross in which inheritance of two characters
character is considered. are considered at a time.
2. Tall plant is crossed with dwarf plant. 2. Tall plant with purple Flowers is crossed with
a dwarf plant with white flower.
3. The F1 hybrid produces two types of 3. F1 hybrid produces four types of gametes by
gametes by segregation independent assortment.
4. In F2 two types of phenotypes are obtained 4. In F2 four type of phenotypes are produced in
in a ratio 3 : 1. a ratio 9 : 3 : 3 : 1.
5. In F2 progeny have Three different 5. F2 progeny have nine different genotype in a
genotypes in a ratio Of 1 : 2 : 1. ratio of 1 : 2 : 1 : 2 : 4 : 2 : 1 : 2 : 1.

36
Differences Between Complete Dominance & Incomplete Dominance
S.N. Complete Dominance S.N. Incomplete Dominance
1. Here one trait is completely dominant over 1. Here one trait is partially dominant over the
the other. other.
2. The phenotypes of dominant homozygote 2. Phenotypes of dominant homozygote and
and heterozygote become same. heterozygote are different.
3. Here the function of recessive gene in the 3. Here the F1 hybrid shows in intermediate
heterozygote is hidden. phenotype.
4. F2 phenotypic and genotype ratio are 4. F2 phenotypic and genotype ratio are same.
different.

Differences Between Qualitative Inheritance & Quantitative Inheritance

S.N. Qualitative Inheritance S.N. Quantitative Inheritance
1. In qualitative inheritance a character is 1. In quantitative inheritance a character is
controlled by single gene pair, hence called contributed by two or more non-allelic gene
monogenic inheritance. pairs, hence called polygenic inheritance.
2. Here a single dominant allele expresses the 2. Here a single dominant allele expresses only a
complete trait. fraction of the trait.
3. Usually no intermediate forms are 3. Intermediate forms with graded characters are
produced. produced.
4. These traits are not measurable and not 4. These traits are measurable and are generally
Influenced by environment. E.g: yellow influenced by environmental factors. Eg:
and green cotyledon. height, weight, skin colour of human.

Differences Between Qualitative Inheritance & Quantitative Inheritance

S.N. Dominant S.N. Recessive
1. Out of the two contrasting characters or 1. Out of the two contrasting characters or traits,
traits, when only expresses or appears in a when a single traits fails to express itself in
generation, then the trait is known as the successive generation, then the trait is
dominant trait. known as recessive trait.
2. It can form complete or active polypeptide 2. It can form an incomplete or defective
or enzyme for expressing its effect. polypeptide or enzyme so that it is unable to
express its effect.

37
Differences Between Incomplete Dominance and Codominance
S.N. Incomplete Dominance S.N. Codominance
1. The phenotype of hybrid does not resemble 1. The phenotype of hybrid resembles both the
either of the parent. parents.
2. Hybrid possesses a new phenotype. 2. New phenotype is not formed.
3. No allele possesses an independent effect. 3. Both the alleles produce independent effects.
4. An intermixing of the effect of two alleles 4. No blending or intermixing of the two alleles
can be noticed is observed.

5. The overall effect of the incomplete 5. There is no intermediate phenotypic effect.

dominance is intermediate phenotypic
effect.
Example : red white flower colour in Example : AB blood group.
snapdragon.






















38
 THE SEARCH FOR GENETIC MATERIAL
Genetic material is the substances which stores biological information in coded form and transfer it to
next generation and causes its expression in the offsprings.
CHARACTERISTIC OF GENETIC MATERIAL:
1. It should be present in every cell in same amount.
2. The genetic material should be able to replicable and then be transmitted faithfully to the next
generation.
3. The genetic material should show diversity i.e. mutation and recombination. These variations
should be stable and inheritable.
4. Genetic material must contain all the biologically used information in a stable form.
5. The genetic material should be able to generate its own kind and also new kinds.
6. The genetic material (DNA content) reduced to half during gamet formation.
 These requirements are met by DNA and thus DNA is now accepted as genetic material.
 The chromosome consist of protein, DNA and RNA. The protein can’t be the genetic material
because the protein content and composition of sperm head differ from the ordinary cells. The RNA
can not meet the requirements for the genetic material.
 The DNA is the real genetic material.
Experimental evidence for DNA’s role as genetic material:
Two experiments are cited to prove that DNA is the genetic material.
I. Griffith’s experiment: (Bacterial transformation)
 Transformation is defined as the process of transfer of DNA from one bacteria to another without
direct contact.
 The substance which brings about transformation is called transforming agent and it brings permanent
inheritable change.
 In 1928 Fredrick Griffith an English bacteriologist experimented with Streptococcus pneumonae
which causes pneumonia in mammal.
Process:
i. According to this experiment, the bacteria penumococcus is found in two different strains
capsulated (smooth / S) and non capsulated (rough/ R).
ii. The capsulated bacteria has a capsule, can cause the disease pneumonia so it is called pathogenic
bacteria or virulent strain.

39
iii. The non capsulated bacteria can’t cause disease so it is called non pathogenic or avirulent
bacteria.
iv. Griffith injected S and R strains into mice.
v. When smooth virulent bacteria were injected into the mice, the mice suffered from pneumonia
and ultimately died.
vi. When rough non virulent bacteria were injected the mice did not suffer from pneumonia and
survived.
vii. When heat killed smooth bacteria was injected there was no disease.
viii. When mixture of living rough and heat killed smooth bacteria were injected the mice suffered
from pneumonia and died.
 From this it was concluded that living rough bacteria was transformed into smooth type.

40
Identification of Transforming agent:
 Avery Macleod and McCarty (1944) repeated the bacterial transformation experiment in vitro.
 They purified biochemicals from the heat killed S-III type bacteria into three components DNA,
carbohydrate and protein.
 DNA fraction was divided into two parts:
i. One with deoxyribonuclease (DNase)
ii. Other without it
 The four components were then added to separate culture tubes containing living R type bacteria
and analysed.
Living RII type + Protein of S-type  R type (R colonies)
Living RII type + Carbohydrate SII type  R type (R colonies)
Living RII type + DNA of S-III type + DNase  R type (R colonies)
Living RII type + DNA of S-III type  R-II type + S-III type (R colonies + S colonies)
 It was confirmed that the DNA from dead capsulated bacteria develops a capsule in living non-
capsulated bacteria.

II. VIRAL TRANSDUCTION

 Viral transduction is defined as the process of transfer of DNA from one bacteria to other through a
bacteriophage.
 This experiment was given by A.D.Hershey and M.Chase (1952).
PROCESS:
i. Hershey and Chase took two kinds of organism in their experiment, bacteria (E.coli) and
bacteriophage (T2).
ii. They took phage particles which were isotopically labelled either S 35 protein coat or other with
P32 DNA.

41
 iii. The unlabelled and uninfected bacteria were infected with any one kind of phage.
iv. Bacteria inflected with S35 labelled phges did not show any radioactivity while those infected with
P32 labelled phage were very radioactive.
 From this it was concluded that it is phage DNA but not the protein which contains the genetic
information.
 The viral DNA rapidly enters into the host cell where as the viral protein does not.
 Therefore the chemical nature of gene is the DNA.

42
 STRUCTURE OF NUCLEIC ACIDS(DNA AND RNA)
Nucleic Acids :
 In every living cell, there are two types of nucleic acids - DNA - Deoxynucleic Acid and RNA -
Ribonucleic Acid.
 DNAs are found in the chromosomes in the nucleus of plant and animal cells.
 In prokaryotes also DNA, forms the chromosomes.
 Some viruses, especially animal viruses have it as their genetic material.
 Furthermore, it is also found in mitochondria of plant and animal cells and in chloroplasts of
photosynthetic organisms.
 Ribonucleic Acid (RNA) mainly found in the cytoplasm of cells.
 There are various types of RNAs (rRNA, tRNAs, mRNA) involved in the expression of genetic
information.
 In ribonucleic acids, the sugar is ribose; in deoxyribonucleic acids, it is deoxyribose.
 These two sugars differ in their chemical nature on carbbn 2 as shown below.

 Nitrogenous base: All nitrogenous bases found in DNA and RNA are derive from two heterocyclic
bases, purine and pyrimidine.
1. Purine base
 Two principal purine bases found in deoxyribonucleic acids as well as ribonucleic acids are
adenine and guanine.

43
 2. Pyrimidine bases:
 Cytosine and uracil are found in ribonucleic acids; cytosine and thymine, in deoxyribonucleic
acids.

Nucleosides
 Nucleosides are formed from the linkage of a purine or pyrimidine base with ribose or deoxyribose.
 This linkage joins nitrogen 9 of the purine base, or nitrogen 1 of the pyrimidine base with carbon 1′ of
pentose. With ribose ribonucleosides are formed and with deoxyribose, deoxyribonucleosides. The
following table indicates the nomenclature of the main nucleosides.
Base Ribonucleoside Deoxyribonucleoside Ribonucleotides Deoxyribonucleotides
Adenine Adenosine Deoxyadenosine Adenylic acid Deoxyadenylic acid
Guanine Guanosine Deoxyguanosine Guanylic acid Deoxyguanylic acid
Uracil Uridine — Uridylic acid —
Cytosine Cytidine Deoxycytidine Cytidilic acid Deoxycytidylic acid
Thymine — Deoxythymidine — Deoxythymidylic acid
Nucleotides
 Nucleotides are the phosphoric esters of nucleosides. Depending on the nature of the pentose one will
have ribonucleotides and deoxyribonucleotides.
 A ribonucleoside has 3 positions, which can be phosphorylated (2′, 3′ and 5′) while a
deoxyribonucleoside can be phosphorylated only in two places (3′ and 5′). This results in the
formation of nucleoside monophosphate.
 A second phosphate group can be bound to the phosphate of a nucleoside monophosphate to form a
nucleoside-di-phosphate.
 Likewise a third phosphate group can also be attached to the second forming nucleosides tri-
phosphate.

44
 STRUCTURE & FUNCTION OF DNA(LONG ANSWER)
Deoxyribonucleic acid (DNA)
Promiscous DNA : DNA
 DNA is the important component of the cell. segment with common
base sequence are found in
 It is mainly located in nucleus i.e in chromosome (chromosomal DNA).
chloroplast, mitochondria
 It is also found in mitochondria and chloroplast (Cytoplasmic DNA). and nucleus are known as
promiscous DNA.
 In prokaryotes it is found in cytoplasm.
 The DNA of eukaryotic chromosome is linear.
 Circular DNA is found in mitochondria, plastid and prokaryotic cells.
Chemical Composition
 It is formed by two deoxyribonucleotide chains twisted around a common axis.
 Each deoxyribonucleotide consist of a deoxyribo sugar, a nitrogenous base and the phosphoric acid
group.
 The nitrogenous bases present in DNA are Adenine, Guanine, Thymine, and Cytosine.
 The only nitrogenous base absent in DNA is uracil.
 Polynucleotide strand is made of back bone of sugar and phosphate forming its long axis, and bases at
right angles to it. The two polynucleotide strands are complementary to one another.
 The two chains or stands are antiparallel, i.e, they run in opposite directions in relation to their sugar
molecule. Their 5’ P 3’ OH phosphodiester links are in opposite direction.
 A base pair consist of a purine and a pyrimidine
 Adenine pairs with thymine by two hydrogen bonds.
 Guanine pairs with cytosine by three hydrogen bonds.
 Phosphodiestar bonds are formed between 5’ carbon of sugar of one nucleotide and 3
carbon of sugar of the next nucleotide.
 Nitrogenous base is attached to 1’ carbon of sugar. At this place purine base is attached by its 9 ’
position and pyrimidine by its 3’ position.

 If the DNA molecule is exposed to high temperature(90°C) the two strands separate by break down of
hydrogen bonds this process is called denaturation.
 At a low temperature (20 – 25°C) the strands reassociate this process is termed as renaturation.

45
46
Watson – Crick model :
 J.D. Watson and F.H.C crick suggested the double helical structure of DNA in 1953.
 The two polynucleotide chains (strands) of DNA molecule are spirally coiled around a common axis.
 The two strands are anti-parallel and complementary to each other.
 The helix is generally right handed.
 The helix has a major groove to about 22Å wide and minor groove of 12Å.
 The complete turn is 34Å long, and has 10 base pairs.
 The distance between two base pairs is 3.4Å.
 The double helix has a constant diameter of 20Å
FORMS OF DNA
These are five forms of DNA
1. A- DNA – It has 11 base pairs per turn of the helix.
2. B- DNA – It has 10 bair pairs.
3. C- DNA- It has 09 base pairs per turn of the helix.
4. D- DNA – It has 08 base pairs per turn of the helix.
5. Z – DNA – It is left handed double helical structure. It has 12 base pairs per turn of helix.
Out of them B- DNA is stable and physiologically active form.
Chargaff’s Rule : (Base equivalence rule)
Erwin Chargaff (1950) made some important generalization on the basis of observations on base and
other content of DNA.
i) Purines and pyrimidines are always in equal amounts.
A + G = T + C.
Also A + C = G + T
ii) The amount of adenine is always equal to that of thymine and amount of guanine is always equal
to that of cytosine.
(A+T)/(G+C) Ratio :
A=T and G = C Euglena : 0.88
1. A + T / G + C = constant for a spc. (variable for different spcs.) E.Coli : 0.93
Man : 1.55
2. A-T base pairs rarely equal to G – C base pair. Pea : 1.62
Function of DNA
1. Hereditary Information : All the hereditary information is contained in DNA. It occurs in the form
of cistrons or structural genes, regulator and operator genes. The information is coded in arrangement
or sequence of nitrogen bases.
2. Variations : There is reshuffling of DNA molecules during gamete formation and their fusion.
Crossing over occurs at the time of meiosis. Both the phenomena produce variations. Variations bring
about individuality and adaptability.

47
3. Mutations : They are sudden inheritable variations which appear due to changes in genetic material
or DNA. Mutations are mother of all variations.
4. Autocatalytic Function : DNA is able to form its carbon copies. The phenomenon is called
replication. Replication occurs at the time of cell division.
5. Heterocatalytic Function : DNA functions as template for the synthesis of different types of RNAs.
The phenomenon is called transcription.
6. Control of Metabolism : DNA controls cellular metabolism through transcription of selective RNAs
and subsequent synthesis of specific enzymes with the help of RNAs.
7. Growth and Differentiation : Cells grow, divide and differentiate, form tissues and organs due to
differential functioning of specific genes or cistrons.
8. Gene Therapy : There is a possibility of correcting defective heredity and disorders by changing I
genes or their expression.
9. DNA Finger Printing : Each individual carries specific hypervariable minisatellite DNA sequences.
Studying these sequences is called DNA finger printing. It is used for resolving parent-hood disputes
and identification of individuals.
10. Development : The different development stages of an individual are controlled by an internal clock
operating in DNA.
11. Antisense Therapy : It is the technique of silencing specific genes of an individual or a pathogen
with the help of RNAs complementary to their nucleot ide sequences.

RNA WORLD
 The term RNA world was first used by Walter Gilbert in 1986.
 Early life was RNA centric with every important function being controlled by it. Some of the
functions :
 The first genetic material was RNA (even now some organism have RNA as genetic material).
 The first biocatalysts were RNAs. Even now some enzymes are made of RNAs, e.g., Ribozyme)
 Metabolism, translation & splicing evolved around RNA.
 RNA worked well in early unstable environmental conditions. As the environment became stable,
RNAs were replaced in two of its functions.
i. Genetic material – DNA (more stable)
ii. Biocatalyst – Protein enzymes (stable, efficient, varied)
 Proteineous enzymes increased metabolic activities and paved the way for evolution of more complex
organisms.

48
 If life arises from non-living, chemicals, there must be intermediate forms “pre-cellular life”. The
most suitable choice appears to be RNA world.

Ribonucleic Acid (RNA)

 In prokarytoes it is found in cytoplasm.
 In eukaryotes it occurs in cytoplasm, nucleus and ribosomes.
Composition
 RNA molecules is a single chain of ribonucleotide, which is composed of phosphate, ribose sugar
and nitrogenous bases.
 The nitrogenous bases are adenine, guanine, cytosine and uracil.
 Instead of thymine RNA posses uracil.
Types
 RNA is of two types : (a) Genetic RNA, (b) Non-genetic RNA
(a) Genetic RNA : In many viruses like TMV, bacteriophages RNA acts as the genetic material.
(b) Non-genetic RNA: This type of RNA is present in cells where DNA is genetic material. These
are three major types of RNA (i) rRNA (ii) mRNA (iii) tRNA.

49
i. Ribosomal RNA:
 The RNA molecule is greatly coiled. It is formed from DNA in the molecular organizing
region.
 In combination with protein it forms ribosomes.
 It forms 80% of total RNA.
 The basic structure or ribosomes is due to their rRNA.
 In prokaryotes 30s of subunit has 16s rRNA, 50s subunit has 23s and 5s rRNA.
 In eukaryotes 40s subunit has 18s rRNA, and 60s has 28s, 5.8s and 5s rRNA.
ii. Messenger RNA:
 It is the chemical messenger, it carries the genetic information present in DNA to the
cytoplasm for synthesis of protein.
 It constitutes 5 to 10% of total RNA.
 There is specific mRNA for each polypeptide so called monocistronic.
 Bacterial mRNA is polycistronic.
 It is linear.
 It is the longest of all the RNA
 It directs the attachment of an aminoacid.
 In eukaryotes all mRNAs are monocistronic i.e. each represents a single gene. But in
prokaryotes, the majority is polycistronic mRNAs arraying coding sequences for many
polypeptides while some mRNAs are monocistronic.
iii. Transfer RNA: (Soluble RNA)
 It is also single stranded but due to complementary pairing it takes a shape of clover leaf
(Proposed by Holley)
 It has many varieties; each tRNA can carry a particular amino acid to mRNA.
 A number of unusual bases such as speudouridine (), DHU (Di Hydroxy Uridine) and rT
(ribo Thymidine) are present in tRNA.
 A tRNA molecule has four regions
1. Aminoacyl synthetase binding loop (DHU loop or Dihydrouracil loop)
2. Aminoacid binding site : A specific amino acid joint at this site. It has a base triplet CCA-
with OH 3’ end
3. Anticodon site : It has three unpaired ribonucleotide called anticodons. These anticodonos
have complementary bases on mRNA chain.
4. Ribosome binding site TψC loop : It forms 15% of total RNA. It is the smallest RNA.

50
 Three Dimensional Structure Showing L-shaped strutucture.
Function of RNA
(i) It brings about protein synthesis.
(ii) Function of mRNA is to carry the genetic information for synthesis of a particular protein from
DNA to site of protein synthesis.
(iii) tRNA selects the aminoacid from the cytoplasm and carry it to the site of protein synthesis.
(Translation)
(iv) rRNA forms the ribosome.
(v) rRNA binds the codon of mRNA with anticodon of tRNA.
(vi) RNA primer : It is essential for DNA replication.
(vii) Genomic RNA : Hereditary information is coded in RNA instead of DNA in riboviruses and
viroids.
(viii) DNA Compaction : Compaction of prokaryotic DNA is carried out by small RNA strands.
(ix) RNA Processing : snRNAs take part in splicing and processing of RNA.
(x) RNA Enzymes : Ribozyme (Cech et al 1981), ribonuclease-P and peptidyl transferase are
enzymes made of RNAs.
Packaging of DNA Helix
 The haploid human genome contains approximately 3 billion base pairs of DNA packed into 23
chromosomes.

51
 Most cells in the body (except for an egg and the sperm) are diploid, with 23 pairs of (46)
chromosomes thus making a total of 6 billion base pairs of DNA per cell.
 In prokaryotes like E.coli DNA is folded with the help of RNA to form super coiled complex of
numerous loops called nucleoid or prochromosome.
 In eukaryotes DNA is stabilized with the help of a set of positively charged basic proteins called
histones and the DNA protein complex is called chromatin.
 Chromatin mainly consists of DNA and proteins.
 The dark stained bands of chromatin are called heterochromatin and lightly stained bands are called
euchromatin.
 The proteins are of two types, positively charged histones and negatively charged nonhistones.
 Histones are basic in nature and contain large amount of positively charged basic amino acids lysine
and arginine, making it possible for them to join by hydrogen bonds electrostatically to the oxygen
atoms of negatively charged phosphate groups of nucleotides of DNA near the minor groove.
 The histones are of five types
(i) H1 (rich in Lysine)
(ii) H2a (Slightly rich in Lysine)
(iii) H2b (approximately equal Lysine & Arginine or Slightly rich in Lysine)
(iv) H3 (slightly rich in Arginine) and
(v) H4 (rich in Arginine)
 Non-histones are acidic in nature and being negatively charged, they are likely to hind to positively
charged histones.
 The function of DNA is to carry hereditary information. The function of histone proteins is to
organize DNA in chromosomes while non—histone proteins play structural role like bending of DNA
during coiling.
 The average distance between the two adjacent base pairs is 0.34 nm (0.34 × 10–9) or 34 Å.
 The number of base pairs in Escherichia coli is 4.6 × 106. The total length of its DNA is 1.36 mm.
 Similarly 6.6 × 109 bp of the two human genomes, i.e., diploid cell will have DNA length of 2.2
meters. The long sized DNA are accommodated in small areas (about 1 µm in E. coli and 5 µm
nucleus in human beings) only through packing or compaction.
 DNA is acidic due to presence of a large number of phosphate groups. Compaction occurs by folding
and attachment of DNA with basic proteins, histones in eukarytoes and nonhistone in prokaryotic
cell.

52
 The electron microscopic study reveals that chromatin fibres are composed of linear arrays of
ellipsoidal particles. According to Ada and Olins, these particles occur regularly along the axis of the
chromatin strand and resemble “beads on string”.
 The beaded appearance is due to these ellipsoidal particles called Nucleosomes or nu Body.
 It is known as unit of chromosome. There are no. of model has been proposed to explain the
arrangement of DNA & Histone protein in Chromosome but the most advanced and accepted
Nucleosome model was proposed by Kornberg & Thomas.
 The name nucleosome or nu body was given by Outdet.
 The structural details of the nucleosome was given by Bradbury & his colleagues(1981).
 Each nucleosome has a diameter of ii nm and height of 6 nm.
3
 It consists of 1 turn of ds DNA and octamer of histone proteins.
4

 The core histones consist of eight molecules of histones forming octamer (two molecules each of
H2A, H2B, H3 and H4) wrapped up tightly by DNA called core DNA.
 The successive nucleosomes are joined by unwounded part of DNA called linker DNA (“string” in
the “beads on string”). A single molecule of HI histone is attached at the junction where DNA enters
and leaves the core. Thus, HI histone is not the part of the core histone and it is called linker histone.
 The length of core DNA is 200 base pairs and it is an invariant feature of nucleosomes of all the
eukaryotic cells. On contrast, the length of linker DNA is 10 base pairs commonly. (In human, length
of core DNA is 185-200 base pairs and that turn of ds of linker DNA is 38-53 base pairs).
 The combination of one nucleosome & linker DNA is known as Chromatosome.
 According to Klug, the combination of six nucleosome constitute one solenoid. Actually the
nucleosomal organization has approximately 10 nm thickness, which gets further condensed and
coiled to produce a solenoid of a 30 nm diameter. This solenoid structure undergoes further coiling to
produce a chromatin fibre of 300 nm.

53
SHORT NOTES :
Packaging of DNA
i. Packaging of DNA in prokaryotes
 In prokaryotes, well-defined nucleus is absent so DNA is present in a region called
nucleoid. The negatively charged DNA is coiled with some positively charged non-
histone basic proteins.
 DNA in nucieoid is organised in large loops held by proteins.
ii. Packaging of DNA in eukaryotes
 Roger Kornberg (1974) reported that chromosome is made up of DNA and
protein.
 Later, Beadle and Tatum reported that chromatin fibres look like beads on the
string, where beads are repeated units of proteins.
 The proteins associated with DNA is of two types — basic proteins (histone and
protamine) and acidic non-histone chromosomal (NHC) proteins.
 The negatively charged DNA molecule wraps around the positively charged
histone proteins to form a structure called nucleosome.
 The nucleosome core is made up of four types of histone proteins—H2 A, H2B, H3
and H4— occurring in pairs.
 200 bp of DNA helix wraps around the nucleosome by 1¾ turns, plugged by H1
histone protein.
 Repeating units of nucleosomes form the chromatin in nucleus, which is a thread-
like structure.
 The chromatin is packed to form a solenoid structure of 30 nm diameter.
 Further supercoiling forms a looped structure called the chromatin fibre.
 These chromatin fibres further coil and condense at metaphase stage of cell
division to form chromosomes.

54
 Distinguish between Prokaryotic DNA and Eukaryotic DNA
Prokaryotic DNA Eukaryotic DNA
01 It is found in cytoplasm. 01 It is found in nucleus, mitochondria and
chloroplast.
02 It is circular and double stranded. 02 It is linear & double stranded(ds)
03 It is naked, without histone. 03 With histone protein.
04 Non coding introns are absent. 04 DNA is mosaic with exon and introns.

05 G : C contents are more 05 A : T contents are more

06 On heating it is denatured as a tangled 06 It is denatured into 2 separate strands.
mass.
07 It exists singly. 07 It exists in pairs.
08 Repeated sequences absent. 08 Present.
09 Very little part of DNA is functionless. 09 Greater part of DNA is non cistronic and
functionless.

DNA RNA
01 It is present mainly in nucleus, Mitochondria It is present in nucleus as well as cytoplasm.
& Plastid
02 It is commonly double stranded It is commonly single stranded.
03 Pentose sugar is deoxyribose. Pentose sugar is ribose.
04 A, G, C & Thymine are nitrogen bases. Thymine is replaced by Uracil.
05 DNA shows purines and pyrimidines RNA usually does not show purines and
equality. pyrimidines equality.
06 Many unusual or modified bases are often
Unusual bases are very few or absent. present.
07 Hydrogen bonds are formed between Base pairing through hydrogen bonds occurs
complementary nitrogen bases of the only in the coiled parts.
opposite strands of DNA (A-T, C-G).
08 DNA is longer as it show thousands of RNA is comparatively shorter as it shows few
nucleotides. hundreds of nucleotides.

55
 09 DNA performs genetic role in all the RNA plays cellular role in all the organisms
organisms and viruses. and viruses and genetic role in some viruses.

10 DNA is of only two types; intra-nuclear and RNA is functionally of three types, viz,
extra-nuclear. mRNA, rRNA and tRNA.
11 It is Fuelgen positive. RNA is Fuelgen negative.
12 DNA is the genetic material. RNA is not the genetic material & except in
certain viruses, e.g.,Reovirus/ RSV.
13 It can be hydrolysed by DNA-ase. It is hydrolysed by RNA-ase.
14 Its quantity is fixed for cell. The quantity of RNA of a cell is variable.

mRNA rRNA tRNA

1. It accounts for about 5% of 1. It accounts for about 1. It accounts for about 15% of
total RNA n the cell. 80% of total RNA in the total RNA in the cell.
cell.
2. It consists of 75-6000 bases. 2. It consists of 100-5000 2. It consists of 73-90 bases.
bases.
3. Its sedimentation coefficient 3. Its sedimentation 3. Its sedimentation coefficient
is 6-30 S. coefficient is 5S, 5.8S, is 4S.
28S and 18S in
Eukaryotes; 5S, 16S and
23S in Prokaryotes.
4. It is longest with maximum 4. It is smaller; most 4. It is smallest and coiled like
mol. Weight but is least abundant and highly a clover leaf.
abundant. coiled.
5. It carries a coding message 5. It carries no coding 5. It carries anti coding
for Proteinous amino acids. message. message for amino acid.
6. It is linear and never coiled. 6. It is linear and coiled. 6. It is folded.
7. It is synthesized by RNA 7. Its synthesis occurs in 7. It is synthesized by RNA
polymerase II in nucleus, nucleolus by RNA polymerase III in nucleus.
polyme-rase I.
8; It has no modification on 8. Modification in bases is
8. About 5% bases are
bases in coding region. very less. modified.
9. It is short lived (3 seconds to 9. It is most stable, used
9. It is quite stable, used again
few days) and used once, again and again and and again, degrades very
degrades after protein does not degrade. slowly.
synthesis.
10. It is called template/nuclear/ 10. It is called insoluble 10. It is called adapter RNA and
messenger or informational RNA and forms carries amino acids to
RNA as it carries genetic ribosomes. mRNA during protein
information provided by synthesis.
DNA.

56
 Replication of DNA
The process of making an identical / exact copy of DNA using DNA as template for the synthesis of
new DNA strand is known as DNA replication.
 Replication is the formation of exact carbon copies of a substance.
 It takes place S-Phase of interphase. There are three possible ways of DNA replication,
(a) dispersive (b) conservative, and
(c) semi – conservative.
 Out of this three ways semi – conservative replication was proved experimentally.
Replication of DNA is semi-conservative:
 It was given by Watson and Crick. This was experimentally confirmed by Meselson and stahl.
Experiment
 They grew E.Coli bacteria in a medium containing heavy nitrogen isotope 15N for may generation
and produced bacterial cells having 15N DNA.
 Then those bacteria were grown in 14
N containing
medium and daughter cells were found having all
hybrid DNA i.e, 15N 14N.
 Second generation have two types of DNA molecule
50% half heavy 15N 14N and 50% normal 14N14N.
 All this conforms the semi-conservative replication.
Enzymes of DNA replication:

DNA replication is a complex enzymatic process require many

enzymes. Such as -

1. Helicases:
These unwind the original DNA helix. After supercoils
are removed by topoisomerases.
2. Topoisomerases:
It remove the supercoils.
3. Single Stranded binding proteins (SSB):

SSB binds with the opened single strands and prevents

reforming of duplex. SSB is known as replication
factor A in eukaryote.

57
4. DNA polymerases:

DNA polymerase synthesizes DNA in 5 to 3 direction. i.e., new nucleotides are added to 3 OH
and of the DNA chain.

In prokaryote it is three type I, II and III. DNA polymerase I & II are involved in DNA repair and
proof reading in prokaryotes, polymerase III is the major polymerase involved in DNA replication
(chain elongation).

Polynucleotide (n)+d NTP 

 Polynucleotide (n+1) + PPi
polymerase

DNA polymerase I is the major repair enzyme. Also help in proof reading. It is known as
Kornberg enzyme.

DNA polymerase II is the minor repair enzyme.

Polymerase III has got exonuclease property, i.e., it can remove nucleotides from the 3′ end of the
growing DNA strand (3′ - 5′ exonuclease).

It helps in proof reading so that any wrong nucleotide added at 3′ end can be removed.

Polymerase I has 5′-3′ exonuclease function, it can remove short RNA primers from RNA-DNA
hybrid.

5. Primases:
Primer is a short piece of DNA or RNA strand which is synthesized by primase in E.coli and in
eukaryote by DNA polymerase .
6. DNA ligases :
This enzymes joins the bits of DNA by forming phosphodiester bond between 3 hydroxyl and 5
phosphate group.

 In eukaryotes there are five types of DNA polymerase. i.e., , , , , .

 DNA polymerase  — Cytoplasmic polymerase (help to synthesize primer RNA)

 DNA polymerase  — Nuclear polymerase

Proof Reading
 DNA polymerase  — Mitochondiral polymerase

 DNA polymerase  — Nuclear polymerase

 DNA polymerase  — Nuclear DNA repair

58
 Proteins/ Enzymes Roles in Replication Remarks

Helicase Unwinds double helix Moves along lagging strand. It is a DNA

B-protein

Primase Synthesizes RNA Primer a subunit of Primosome complex,

synthesizes RNA Primer

SSB Proteins Stabilize single strand Tetrameric protein, its positive charges
interact with negatively charged
phosphates of DNA.

DNA gyrase Relieves Super-coiling It is Topoisomerase II requires ATP

hydrolysis effects double stranded cuts

DNA Polymerase II DNA synthesis on both Exists as repliosome. Fast Polymerising

enzyme.

DNA Polymerase I Removes RNA Primers Slow polymerising enzyme; hence

required in large number.

DNA ligase Joins Okazaki fragments Seal open ends of DNA, through 3′-5′
phosphodiester formation.
Mechanism of DNA replication:
DNA replication involves following major stages.
1. Origin of replication
2. Activation of Deoxyribonucleotides
2. Initiation of DNA replication
3. Unwinding of helix.(Exposure of parent DNA bases)
4. RNA priming
5. Elongation of new strand.
6. Proof reading
1. Origin of Replication :
 A particular region of DNA where replication begins is called origin of replication or Ori.
 Prokaryotes have a single Ori while eukaryotes have many.
 A single replicating unit in DNA of prokaryotes is called replicon.
 DNA of eukaryotes have a number of replicons or replicating units.
 The DNA replication can be unidirectional or bidirectional.
 At the origin when the two strands separate it forms a replication eye.

59
 In unidirectional replication, one of the two ends of the “eye” remains stationary while the other
end moves along the replication fork.
 In bidirectional replication both ends move along the replication.
 An example of unidirectional replication is replication of mitochondrial DNA (mtDNA) in
vertebrates.
 Replication proceeds on both the sides from the Ori.
 This is called bidirectional replication.

60
2. Activation of Deoxyribonucleotides
 Four types of deoxyribonucleotide monophosphates – dAMP, dGMP, dCMP,, dTMP with the
help of energy, phosphate and an enzyme phosphorylase, the nucleotides are changed into
triphosphate state. This reaction is called phosphorylation catalysed by phosphorylase.
 It produces deoxyribonucleotide triphosphates.
dAMP dATP
dGMP + 2H3PO4 dGTP

Phosphorylase
Energy

dCMP dCTP
dTMP dTTP
3. Initiation of replication:
 Initiation of replication starts at a point called replication origin. These is only one origin of
replication in prokaryotes and viruses but eukaryotes have several origin of replication (e.g.,
yeast-400, human-1000).
 These linearly arranged units are called replicons.(multiple replication units Present in
eukaryotice chromosome are called replicons).
 The origin is recognised by replication initiation protein (RIP) which binds to the origin (ori) to
begin replication by booking hydrogen bonds.
 In yeast, the origin is known as Autonomous Replicating Sequence (ARS) & is 150 base pairs
long.
 ARS is the binding site for origin Recognition Complex (ORC).
4. Unwinding of helix:
 The two strands of DNA are separated from each other.
 This process takes place by enzyme helicase known as rep protein.
 The super coil formed due to unwinding are removed by topoisomerases (DNA gyrase).
 Due to the unwinding of double helix a Y-shaped replication fork(unzipping) is formed.
 These exposed single strands are stabilized by single strand binding protein (ssb) or helix
destabilizing protein.
5. Formation of primer strand:
 Replication fork exposes two different ends of the two DNA strands, 3 end and 5 end.
 At the 3 end of one strand and 5 end of the second strand a small RNA primer is synthesized
with the help of DNA dependant RNA polymerase or primase.
 The synthesized RNA is called RNA primer.
 DNA polymerase III is incapable of initiating DNA synthesis i.e., it is unable to deposit the first
nucleotide. Enzyme primase initiates the synthesis by producing a short primer starand of RNA.

61
6. Elongation of new strand:
 The two separated DNA strands in the area of replication fork now function as templates.
 Their nitrogen bases attract complementary phosphorylated nucleotides, i.e., dATP opposite T,
dTTP opposite A, dCTP opposite G, dGTP opposite C. Enzyme pyrophosphatase removes tow
phosphates from phosphorylated nucleotides and change them into monophosphate state.
 It releases energy which is used in building hydrogen bonds.
dATP dAMP + 2Pi + energy
dGTP dGMP + 2Pi + energy
dCTP

Pyrophosphatase
dCMP + 2Pi + energy
dTTP dTMP + 2Pi + energy
 DNA polymerase adds deoxyribonucleotides to the 3’OH end of a growing polynucleotide.
(DNA polymerase III in prokaryote and polymerase  /  in eukaryotes)
 DNA replication occurs in 5 → 3 direction i.e., nucleotides are added only to 3 OH end of the
new strand.
 DNA replication proceeds on both the parental strands simultaneously.
Leading strand:
 This strand is synthesized along the upper parental strand in 5→3direction.
 This strand grows continuously without any gap. Only a single RNA polymerase is required.
Lagging strand:
 Synthesis of another daughter strand takes place along lower parental strand in 35 direction.
 It takes place in the form of short pieces known as okazaki fragments (1000 to 2000 nucleotides
long in prokaryote and 100 to 200 in eukaryotes) after the Japanese scientist Reiji Okazaki who
first observed those fragments.
 Each short segment (okazaki) individual elongate in 5 → 3 direction of progress of fork for
each okazaki fragment an RNA primer is also required.
 Each okazaki fragment on the lagging strand has its own primer. The primosome protein complex
moves along the lagging strand and forms RNA primer at intervals on which Okazaki fragments
are synthesized. DNA polymerase I enzyme removes the RNA primers from the lagging strand
through its 5′-3′ exonuclease activity and fills the resulting gaps by adding nucleotides
complementary to those portions of lagging strand.
 Since replication is continuous over one strand and discontinuous over the other, it is called semi-
continuous.

62
Removal of RNA primer:
 The RNA primers are then degraded by DNA polymerase I by exonuclease activity.
 DNA polymerase performs two functions: removes ribonucleotides of the primer by 5 → 3
exonuclease activity, side – by – side fills up the gap by polymerizing activity.
Union of Okazaki fragment:
 The okazaki fragment are joined by the enzyme DNA ligase to form a continuous strand.
 In DNA replication each strand of parent DNA produces a complementary strand to form a
daughter DNA. The daughter DNA consist of a parental strand and a new strand. So in each
daughter DNA half of the parent DNA is conserved.
 This process is called semi-conservative replication.

63
 7. Proof reading (Self correcting method of DNA):

 DNA replication is very accurate and errorless or mutations are very rare i.e. one in ten thousand.

 A proof reading mechanism also exists to rectify it.

 DNA polymerase adds nucleotide in 5 → 3 direction.

 It also removes nucleotide when moves in 3 → 5 direction called exonuclease activity.

 These wrongly introduced bases are removed by exonuclease activity.

 All the DNA polymerase (I, II & III) have 3  5 exonuclease activity but DNA polymerase-I
has only 5  3 exonuclease activity.
 DNA polymerase-III is unable to distinguish uracil (U) from thyamine (T) so that U may be
often incorporated in place of thyamine. Mismatching is corrected by DNA polymerase-I.
 The speed of replication is about 1000 – 2000 nucleotide per second in prokaryotes. The speed
of replication is about 50 – 100 nucleotide per second in eukaryotes.

In eukaryotes a variety of other RNAs are found. These are small nuclear RNA or Sn RNA,
concearned with mRNA processing and small nucleolar RNA (Sno RNA) concearned with
ribosomal RNA processing in nucleolus.



64
 GENE EXPRESSION
 Gene is a sequence of DNA responsible for the coding of a functional polypeptide or other forms of
RNAs.
 Two types of genes are transcribed : (i) RNA genes to form tRNA and rRNA
(ii) Structural genes to form mRNA
 A typical eukaryotic gene contains a structural region coding for RNAs and a promoter (controlling
region) regulating gene expression. The promoter varies in lengths in different genes.
 Promoter is usually located upstream of structural region. It can be several hundred nucleotides long.
 The position of upstream nucleotides are designated with minus (–) sign and those of downstream are
designated with plus (+) sign.
 In prokaryotes the promoter is about 40 base pair long with two conserved or consensus sequences. In
E.coli two important conserved sequences are at –10 and –35 position.
 The –10 position is a hexanucleotide of TATAAT (Pribnow box).
 The –35 position has TTGACA nucleotides.
 The structural region on the nucleotides from which a transcription starts is +1 and usually a purine.
Transcription start point is a purine in 90% of cases.
Central Dogma:
 Central dogmas is defined as the flow of genetic information from DNA to mRNA and from mRNA
to protein.
 It was given by F.H.Crick the central dogma consist of following steps.
DNA 
Transcription
 RNA 
Translation
 PROTEIN
Unidirectional Flow of Genetic Information from DNA to Protein, the central dogma
 The central dogma holds good for most of the cellular genes except some viruses where the genetic
material is RNA.
 This central dogma has been modified by Temin & Baltimore in 1970.
 RNA of these viruses (retro virus-HIV, sarcoma viruses etc) first synthesizes DNA through reverse
transcription (teminism). DNA then transfer information to RNA which takes part in translation of
coded information to form polypeptide.

Modified Central Dogma

65
PROTEIN SYNTHESIS (Gene Expression):
 Proteins are complex macromolecules which provide structural frame work to cell and enzymes.
 Proteins are made up of one or more polypeptide chains.
 The process of protein synthesis consist of two major steps.
(i) Transcription (synthesis of mRNA on DNA)
(ii) Translation (synthesis protein along mRNA)

TRANSCRIPTION
 Transcription is defined as the process of synthesis of RNA from one of the strands of DNA.
 The strand of DNA which transcribes mRNA is called template strand or antisense strand.
 DNA dependent RNA polymerse enzyme is required for transcription. It is of one type in prokaryote
and three types in eukaryoye. (RNA polymerse I for rRNA, II for mRNA, III for tRNA)
 This enzymes move in 5 to 3 direction.
 It takes place in nucleus in eukaryote.
 It takes place in cytoplasm in prokaryote.
 This takes place in G1and G2 phase of interphase.

 The segment of DNA that takes part in transcription is called transcription unit (promoter to
terminator).
 It has three components : (i) promoter, (ii) structural gene and (iii) terminator.
 Transcription starts at the promoter site and stops at the terminator site.
 Eukaryotes require other sequences like enhances, silencer etc.
 Promoter is located at 3' end of template strand.
 Structural gene has 3'  5' polarity this strand of DNA is called template strand or master strand
other strand having 5'  3' polarity doesn’t take part in transcription.
REQUIREMENTS
i. Enzyme RNA polymerase, other enzymes & factors.
ii. A DNA template.
iii. All four types of ribonucleoside triphosphates (ATP, CTP, GTP & UTP)

66
 iv. Divalent metal ions Mg2+ and Mn2+ as cofactor.
 DNA dependent RNA polymerase enzyme is one type in prokaryote and three types in eukaryote.
 Polymerase I for rRNA, polymerase II for mRNA, polymerase III for tRNA.
 RNA polymerase has five polypeptides 2, , ,  in E.coli.
(RNA polymerase does not require a primer unlike DNA polymerase.)

Mechanism of Transcription
 Initiation
o Activation of ribonucleotides
o Binding of RNA polymerase to DNA
duplex.
 Elongation
o Base pairing
o Chain formation
 Termination
o Separation of RNA
o Duplex formation
I. INITIATION
Activation of Ribonucleotides
 The four types of ribonucleotides adenosine monohoshate (AMP), guanosine monophosphate (GMP),
uridine monophosphate (UMP) and cytidine monophosphate (CMP) are phosphorylated by the enzyme
phosphorylase.
 The activated ribonucleotides are ATP, GTP, CTP, UTP.
Binding of RNA polymerase to DNA duplex

67
 Transcription begins at initiation site (promotor).
 RNA polymerase enzyme binds to a specific site of DNA called promoter.
 Promoters is a AT rich region having common sequence TATAAT (TATA box) known as pribnow
box located at –10 region upstream of promotor.
 Sigma factor () is required for recognition after few phosphodiester bond formation the  factor
dissociate.
II. ELONGATION
Base pairing
 The poor polymerase moves along the DNA molecule away from promotor and unwinds one turn of
DNA at a time exposing 10 bases of DNA.
 Ribonucleoside triphosphates come opposite to the complementary nitrogenous bases of DNA
template.
 Pyrophosphatase removes the two extra phosphates present and complementary pairs are formed.
Ribonucleoside triphosphate  Ribonucleotide + PPi + Energy
Chain Formation
 Ribonucleotides are added to 3' end, the chain elongates in 5' ® 3' direction by movement of
transcription bubble.
 The DNA duplex unwinds in the growing point and rewinds at the opposite end.
III. TERMINATION
 Transcription proceeds till RNA polymerase reaches the termination site.
Separation of RNA : It is of two ways :
i. Intrinsic Terminator (rho independent) :- The region of RNA 15 to 20 nucleotide before the end
have self complementary (GC) sequence which forms hairpin structure.
 RNA contains long stretch of U at 3' end, hydrogen bonded to long stretch of A residue of
template DNA.
 Formation of hairpin loop and unstable combination of dA – rU helps in replace of RNA chain.
ii. Extrinsic Termination (rho dependent): - Here  protein (Rho) is required and lacks repeated
adenylates.
 A  factor causes the release of transcribed m-RNA molecules.
 The termination signal recognized by RNA polymerase on DNA is a GC region in prokaryotes
and AT in eukaryotes.

68
   factor binds to 5 end of newly formed mRNA(Nascent RNA) and scans down along the length
of RNA until it reaches the termination site.
 RNA polymerase stops at the termination point.  utilises the energy from ATP and denatures
RNA-DNA hybrid to release the RNA from the transcription bubble.
Duplex formation
 After replace of primary transcript (RNA) DNA duplex is formed by complementary base pairing
unwindases, SSB etc releases.
POST TRANSCRIPTIONAL MODIFICATION
Split Gene / Interrupted Gene (Junk DNA) : Discovered by Richard J. Roberts & Phillip Sharp in 1977
(Nobel Prize 1993).
The mRNA of eukaryotic gene contain both “exons” and “introns”. These are known as split genes or
interrupted genes.

 The primary transcript consist of coding “exons” and non-coding “introns” known as hn RNA
(heterogenous nuclear RNA).
 The introns is the intervening sequences are removed and exons are joined by the process of splicing.
 The process includes capping of 5' end by 7 methyl guanosine and poly A tailing at 3' end.
 Splicing is carried but by a complex called spliceosome formed by RNPs, CU; U 2, U4, U5, U6).
 Exons are joined by ligase to form mRNA.
 Post transcription takes place inside nucleus.

Genetic code
 DNA carries all the genetic information which is expressed in the form protein.
 Proteins are made up of 20 different types of aminoacids. The information related to number and
sequences of aminoacids are present in DNA in the form of coded message called genetic code.

69
 Genetic code is defined as the sequence of three nitrogen bases (or nucleotides) on DNA or mRNA
which select a single amino acid during protein synthesis. [F.C. Crick (1961) proved genetic code is
triplet]
 The modern genetic code was discovered by Nirenberg and Mathaei in 1961 (using synthetic mRNA
of Uracil only which synthesize polypeptide of phenylalanine.
In 1964 Nirenberg and Philip Lader found 47 of 64 possible codons.
HarGovind Khorana worked out remaining 17 codons (Nobel Prize in 1968).
Characters of Genetic code:
1. Triplet code
 A genetic code or codon consist of a sequence of 3 nitrogenous bases or nucleotides.
 There are four nucleotides present on the mRNA or DNA so the total number of genetic code
is 64.
 Nonsense codons – Out of 64 codons 3 codons cannot code for any amino acid. There are
UAA (ochre) UAG (amber) and UGA (opal)
 Inititation Codon– The codon which initates protein synthesis is called initation codon i.e.
AUG and GUG.
2. Universal code:
 The genetic code of all organism are similar and specify same amino acid.
3. Non-ambiguous:
 One codon codes for only one amino acid.
No. of Total No.
4. Commaless: Amino Acids
Codons of Codons
 There is no punctuation or comma between Met, Tryt 1 1×2=2
any of codon triplets. Lys, Tyr, Phe,
Glu,, Asp, 2 2 × 9 = 18
5. Co-linearity: Cys, His,
 The genetic codes are arranged in a linear GluN, AspN
Isoleu 3 3×1=3
order on the DNA or mRNA chain.
Ala, Val, Pro, 4 4 × 5 = 20
6. Non-overlapping: Gly, Thr
 The genetic codes are non overlapping i.e. a Leu, Arg, Ser 6 6 × 3 = 18
single nitrogenous base cannot be counted for Termination 3 3×1=3
codon
two adjacent codons. TOTAL 64
7. Polarity:
 The genetic codes are arranged in 5’→3’ direction on the DNA or mRNA.

70
 8. Degeneracy:
 A single genetic code always has the information for a single amino acid. However a single
amino acid may be coded by more than one (2 to 6) genetic code.
 So 61 functional genetic codes are used to code 20 amino acids.
 The genetic codes like UGG for tryptophan and AUG, codes for methionine except these two
genetic codes all other codons are degenerate.
 Example: Serine codes by UCU, UCC, UCA, UCG, AGU and AGC (6 codons)
9. Related codons:
 Amino acids with similar properties have related codons i.e., codons having one type of
nitrogen base at the first position.
 Example : Aromatic amino acids such as tryptophan (UGG), phenyl alanine (UCC, UUU) and
tyrosine (UAC, UAU) are coded by codons having one type of nitrogenous base at first
position.

Wobble hypothesis:
In the degenerate codons, the first two nitrogen bases are similar while the third one is different. The 3rd
nitrogen base has no much significant effect on coading, this mismatch pairing of codon and anticodon is
called wobble position. This is called wobble hypothesis.

71
 TRANSLATION
 The process of formation of protein as per the message transcribed by mRNA from DNA is called
translation.
 This takes place in cytoplasm.
Following are the major steps:
1. Activation of amino acid (Aminocylation) :
 There are 20 types of amino acid.
 There are 20 different types of synthetases for 20 different amino acids.
 The amino acids are activated in the presence of ATP and enzyme aminoacyl synthetase to form
aminoacyl adenylate enzyme complex.
AA  ATP 
1 Enzyme  AA1  AMP  Enzyme PP
Amino Acid Aminoacyl Synthetase Aminoacyl-adenylate-enzyme complex Pyrophosphate

2. Formation of aminoacyl tRNA (aminoacylation of tRNA) :

 The activated aminoacid form complex with the tRNA at 3’-OH end enzyme and AMP are
released and aminoacyl-tRNA is formed.
AA1  AMP  Enzyme  tRNA1  AA1  tRNA1  AMP  Enzyme
Aminoacyl-tRNA

3. Attachment of mRNA to 30s ribosome:

 The 30s subunit of ribosome binds with the mRNA to form 30s mRNA complex in presence of
IF3 factor in prokaryotes.
 The prokaryotic mRNA has a leader sequence at its beginning just prior to the initiation codon
AUG.
 This sequence is known as Shine-Delgarno Sequence (ASD region), which has homology with the
3′-end of the 16S rRNA (ASD region) found in 30S subunit.
 This complementarity ensures that the 30S subunit binds at the correct position of mRNA and the
translation process starts from the beginning of mRNA.

72
4. Initiation of polypeptide chain synthesis:
 In prokaryote, the initiation amino acid is formylated methionine while in eukaryote it is
methionine.
 So in the prokaryote, there are two types of tRNA for methionine. One is tRNAfmet for initiation
carrying formyl methionine and the other one is tRNAmet for carrying normal metheonine to
growing polypeptide. The initiation of polypeptide synthesis in prokaryote requires the follong :
1. mRNA
2. 30S subunit of ribosome
3. formylmethionyl-tRNA (fmet-tRNAfmet)
4. initiation factors IF-I, IF-2 and lF-3
5. GTP
6. 50S ribosomal subunit
7. Mg+2
 The sequence of events that occurs during initiation are :
1. The smaller 30S subunit of ribosome binds to the transcription factor IF-3 that prevents
premature association of the two ribosomal subunits.
2. The mRNA binds to 30S subunit through the interaction of SD region of mRNA and ASD
region of ribosome so that the initiation codon AUG is correctly positioned at the P site of the
ribosome.
 The fMet-tRNAfmet (the specific tRNA aminoacylated to formyl methionine) binds to the AUG
codon at the P site. The tRNAfMet is the only tRNA that binds to its codon present on the P site.
All other tRNA along with their respective amino acids bind to their codon present at the A site.

73
5. Elongation:
Elongation step involves the addition of further amino acids so that the polypeptide chain would
grow. This step requires the following : 1. The initiation complex, 2. Different aminoacyl-tRNAs, 3.
Two elongation factors (EF-Tu and EF-Ts) and 4. GTP.
(a) Binding of incoming aminoacyl tRNA
 After the placement of initiator codon addition of next amino acids takes place.
 The second aa2 – tRNA occupies the empty of A site of larger subunit in presence of EF-Tu,
EF-Ts in prokaryotes.(Tu – Temperature unstable, Ts – Temperature stable)

74
(b) Peptide bond formation
 The first amino acid is released from the aa1-tRNA.
 Then the first amino acid forms a peptide bond with the second amino acid at the A site in
presence of enzyme peptidyl transferase.
 The ribosomal complex then moves a distance equal to three nucleotide, this process is termed
as translocation.(EF-G in prokaryotes and eEF2 in eukaryotes.)

(c) Translocation
 So the empty tRNA of p site is unloaded and the tRNA containing polypeptide chain is
transferred from A site to p site.
 The A site again becomes vacant, and it is occupied by the third aminoacyl tRNA (aa 3-tRNA).
 The above process is repeated and a long chain of polypeptide is formed.

75
6. Termination of polypeptide synthesis:
 Protein synthesis stops when ribosome come across termination codon (UAA, UAG, UGA).
 These codons are recognised by 3 releasing factors RF1, RF2, RF3. RF1 recognises UAG, RF2
recognise UGA, both RF1 and RF2 recognises UAA.
 RF3 (GTP) splits peptidyl-tRNA bond. The ribosome dissociates into 50S and 30S subunits and
the polypeptide chain is released and the discharged or empty last tRNA is also released from the
P-site.
 In eukaryotes only one release factor eRFI is known.
 RF1, RF2, RF3 resemble the structure of tRNA & compete with it for binding to any one of the
terminator codon at the A-site of ribosome. This phenomenon is known as molecular mimicry.
POST TRANSLATIONAL CHANGE :

 Enzyme deformylase removes formyl group from the first amino acid.
 After translation the polypeptide chain changes to functional protein or enzyme.
 First amino acid is released because it is not a component of all the proteins.
 Poly peptide chain splits into required parts.
 It begins to coil and fold to form secondary and tertiary structures.

76
 The 30s subunit of ribosome binds with the mRNA to form 30s mRNA complex in presence of
eIF2 in eukaryotes.
 In eukaryotes initiation factor such as eIF2, eIF3, eIF1, eIF4A, eIF4B, eIF4C, eIF4D, eIF5, eIF6 are
used for initiation of polypeptide chain synthesis.
 The first aa tRNA in eukaryote is methionine tRNA or met –tRNA.
 The larger subunit (50s) of ribosome then binds with the 30s – initiation complex to form
complete initiation complex and eIF1, eIF4 (A, B, C) in eukaryotes.
 Initiation factors eIF1, eIF2 in eukaryotes are required for attachment of aminoacyl tRNA to the
P-site of larger sub-unit of ribosome.
 The second aa2 – tRNA occupies the empty of A site of larger subunit in presence of eEF1 in
eukaryotes.

 

77
 REGULATION OF GENE EXPRESSION
 Gene is a part of DNA. Each gene controls the synthesis of one enzyme or one polypeptide.
 Gene can be defined as a sequence of DNA responsible for the coding of a functional polypeptide or
rRNA, tRNA and other forms of RNAs.
 Many genes are required for a final product or phenotype.
 The genes which are expressed continuously and used for metabolic activities are known as house
keeping genes or constitutive genes.
 Other genes are called regulated genes which are expressed when required.
 Regulation of gene expression takes place by group of genes called operon. This operon was
discovered by Jacob and Monad in 1961 (Nobel Prize 1965).
 Operon is a coordinated group of genes which are all transcribed together and regulate a metabolic
pathway as a unit.
Gene regulation in prokaryotes (Bacteria):
 Regulation of gene expression takes place in the transcription level. It is achieved by following two
processes.
(i) Induction:
 In this case genes remain in active.
 Addition of a substrate (inducer). Stimulates or induces the synthesis of enzymes.
 The genes are called inducible genes.
(ii) Repression:
 In this case genes remain active until the formation of product is more than required.
 Here the product is repressor and genes are repressible.
Lac operon:
 In E. Coli the enzyme induction is explained by the lactose operon. (Lac operson)
 It is the first operon to be discovered.
 Addition of lactose itself stimulates the production of required enzyme.
 It consist of following genes:
1. Structural genes.
 It is present on the extreme right of lac operon. It contains following three functional genes.
(i) Lac A-Gene coding for enzyme transacetylase.
(ii) Lac y – Gene coding for enzyme permease.
(iii)Lac z – Gene coding for enzyme galactosidase.

78
2. Regulatory gene:
 It is present at the extreme left of lac operon. It codes for synthesis of repressor protein.
3. Promoter gene:
 It is present between regulator and operator genes. At this gene RNA polymerase remains
associated.
4. Operator gene:
 It is close to the structural gene. It has affinity to bind with active repressor.

79
Working:

 Lac operon is an inducible operon. In the presence of inducer it produces the enzymes for lactose
degradation, so it is a catabolic operon.

 The operon model is switched ‘on’ and ‘off’ in the following manner.

1. In the absence of inducer:

 The repressor gene produces active repressor. In the absence of inducer (lactose) the active
repressor binds in the operator gene.

 Operator gene is blocked the RNA polymerse can not move from promoter gene to structural
gene. The structural gene can not transcribe mRNA. So enzymes are not synthesized.

 This is called switch off position of lac operon.

2. In the presence of inducer:

 The repressor gene produces an active repressor.

 The inducer binds with the active repressor to form the inactive repressor the inactive
repressor cannot bind with the operator gene.

 The operator gene is freed. The RNA polymerse moves from promoter gene to structural gene.

 The structural gene transcribes mRNA. So enzymes are synthesized.

 This is called switch on position of lac-operon.

Gene regulation in Eukaryotes

 Gene regulation in eukaryotes is more complex than the prokaryotes.

 The regulation control mechanism ensures that all proteins and enzymes are not required to a cell so
the unnecessary synthesis is checked on the other words energy is conserved.

 In eukaryotes regulation occur in : transcription level, processing level

 Transport of m RNA from nucleus to cytoplasm translation level

 The structural genes has both coding and non-coding segments called exons and introns respectively.

 Each structural gene has its own promoter.

 There are senser genes which recognizes the changes in the intracellular environment such as
presence or lack of substances like vitamins, chemicals, pathogens.

 There are enhancer and silencer genes which accelerate or retard transcription.

80
Advantages of regulation of gene action:
 It conserves the energy and material of the cell.
 It enables the cell to adjust their metabolism to environmental changes.
 It plays a role in growth and differentiation.
House keeping genes:
 Genes which are expressed in all cell types and are continuously expressed are called house keeping
genes or constitutive genes.
 575 genes in human are house keeping genes.
 Their product are required all the time for normal cellular activities.
 They are required by all cells to build cytoskeleton, membranes, ribosomes other organelles to
catalyze vital chemical reactions.
 In prokaryotes gene expression is regulated at cellular level but in multicellular organisms the
regulation is at tissue level.
 These genes are known as tissue specific genes along with this there are some genes.
 For eg; some gene express in liver to produce bile, some in nervous tissue to form neurotransmitters.

GENOME
 The term genome was created in 1920 by Hans Winkler.
 It is perhaps a blend of the words gene and chromosome.
 In modern molecular biology and genetics, a genome is the genetic material of an organism.
 It consists of DNA (or RNA in RNA viruses).
 The genome includes both the genes, the coding regions, the noncoding DNA and the genomes of
the mitochondria and chloroplasts.
 In classical genetics, in a sexually reproducing organism (typical eukaryotes) the gamete has half the
number of chromosomes of the somatic cell and the genome is a full set of chromosomes in a
diploid cell.
 In haploid organisms wit one set of chromosomes, such as cells of bacteria, archaean, and in
organelles including mitochondira and chloroplasts, or viruses, that similarly contain genes, the single
or set of circular or linear chains of DNA (or RNA for some viruses), likewise constitute the
genome.
 Human genome contains 3.1647 billion base pairs.
 The study of genomes and genes based on DNA sequencing is called “Genomics”.

81
 HUMAN GENOME PROJECT
 The Human Genome Project (HGP) is a big international project whose aim is to obtain a complete
description of human genome by DNA sequencing.
 The Human Genome Project (HGP) was officially started on October 1, 1990 in United States as an
international research effort to determine the DNA sequence of the entire human genome.
 This project was completed in April 2003.
 The National Institute of Health (NIH), entered HGP in 1988 and created the National Human
Genome Research Institute (NHGRI) in 1993.
 The U.S. Department of Energy (DOE), where discussions of the HGP began as early as l984.
 The HGP also included efforts to characterize and sequence the entire genomes of several other
organisms which are used extensively in research.
 The blueprint of entire human genome was completed and declared on 26th June, 2000.
GOALS OF HGP
The goals of the project were :
1. To identify all the approximately 30,000 - 35,000 genes in human DNA.
2. To determine the sequences of the 3 billion chemical bases that make up human DNA.
3. To store this information in databases.
4. To develop faster, more efficient sequencing technologies.
5. To develop tools for data analysis.
6. To address the ethical, legal, and social issues (ELSI) that may arise from the project.
HUMAN GENOME
 A genome is the complete collection of an organisrn's genetic material.
 Mapping of human genome actually began in 1911.
 The development of recombinant DNA technology led to new mapping strategies, including the use
of DNA variations as markers on the human genome.
 The studies made under HGP have revealed that there are between 30,000 and 40,000 human genes.
 The International Human Genome Sequencing Consortium published the first draft of the human
genome in 2001.
 According to them human genome is composed of about 31,000 genes located on the 23 pairs of
chromosomes in a human cell which is estimated to consist of about 3 billion base pairs.

82
SALIENT FEATURES OF HUMAN GENOME
Some of the salient observations of the human me are as follows :
1. The human genome contains 3164.7 million nucleotide bases (~ 3 × 109 bps)
2. On an average, there are only about 3000 bases in each gene, though the number differs considerably
with genes.
3. The largest known human gene is dystrophin with 2.4 million bases.
4. The total number of genes estimated is 30,000 though initial estimate varied between 80,000 to
1,40,000 genes.
5. Almost all ( 99.9 percent) nucleotide bases are exactly the same in all people.
6. The functions are unknown for over 50 percent of discovered genes.
7. Less than 2 percent of the genome codes for proteins.
8. Repeated sequences make up very large portion of the human genome.
9. Repetitive sequences are stretches of DNA sequences that are repeated many times, sometimes
hundred to thousand times.
10. Chromosome 1 has most genes (2968), and the Y has the fewest (231).
11. Scientists have identified about 1.4 million locations where single-base DNA differences (SNPs-
single nucleotide po1ymorphism, pronounced as 'snips') occur in humans.
APPLICATIONS AND FUTURE CHALLENGES
I. Disease Administration
 Genome data is anticipated to provide the detailed knowledge of new avenues for advances in
medicine and biotechnology.
 Genetic tests that can show predisposition to a variety of illnesses, including breast cancer,
hemostasis disorders, cystic fibrosis, liver diseases and many others.
Methodologies of HGP
There are two major approaches regarding the methodologies of HGP.
(1) Expressed Sequence Tags (ESTs) : It focussed on identifying all the genes that are expressed as
RNA.
(2) Sequence Annotations : It was based on the blind approach of simply sequencing the whole set
of genome that include all the coding and non-coding sequences and later assigning functions to
different regions in the sequence. In HGP, sequence annotation has been carried out.
(a) The total DNA of a cell was isolated.
(b) DNA was broken in to random fragments of relatively smaller sizes.

83
 (c) The fragments were separated (recall DNA is very long polymer, and there are technical
limitations in sequencing very long pieces of DNA).
(d) Fragments are cloned in suitable host using specialised vectors like BAC (bacterial artificial
chromosomes and YAC (Yeast artificial chromosome). Fragments could be amplified through
PCR (polymerase chain reaction).
(e) Fragments were sequenced using automated DNA sequencers that worked on the principle of

a method developed by Frederick Sanger. (Nobel prize for it, as well as the earlier Nobel prize

for sequencing insulin).

(f) The sequences were then arranged based on some overlaping regions present in them.

(g) This is practically not possible by human beings. So a specialised computerized based

programme was developed.

(h) These sequences were subsequently annotated and were assigned to each chromosome.

DNA FINGER PRINTING (DNA PROFILING)

 DNA fingerprinting (also called DNA typing or DNA profiling.

 It is a technique of determining nucleotide sequence of certain areas of DNA which are unique to

each individual.

 It identify a person on the basis of his/her DNA specificity.

 A DNA fingerprint is the same for every cell, tissue and organ of a person.

 It cannot be changed by any known treatment.

 The ideal way to distinguish an individual from other people would be his or her entire genomic DNA

sequence.

PRINCIPLES OF DNA FINGERPRINTING

 By their differences, about 0.1% provide individually to each human being.

 Human genome possesses numerous small noncoding but inheritable sequences of bases which are

repeated many telomere, centromeres, Y chromosome and heterochromatic area.

 The area with same sequence of bases repeated several times is called repetitive DNA.

 They can be separated as satellite from the bulk DNA during density gradient centrifugation and

hence called satellite DNA.

84
 Some nucleotide repeats in the DNA are very specific in each individual and vary in number from

person to person but are inherited. These are the Variable Number Tandem Reapeats (VNTRs). These

are also called minisatellite. Each individual inherits these repeats from his/her parents which are used

as gentic markers in a personal identity test.

TECHNIQUE FOR DNA FINGERPRINTING

1. The DNA is extracted from the nuclei of white blood cells or of spermatozoa or of the hair follicle
cells that cling to the roots of hairs that have fallen, or been pulled out.
2. The DNA molecules are first digested with the help of enzyme restriction endonuclease (called
chemical knife) that cuts them into fragments. The fragments of DNA also contain the VNTRs.
3. The fragments are separated according to size by gel electrophoresis.
4. VNTRs are multiplied through PCR technique. The VNTRs are treated with alkaline chemicals to
split them into single stranded DNAs.

85
5. The separated fragments of single stranded DNA in the gel are copied onto a nylon paper by
southern blotting technique.
6. Special DNA-probes are made in the laboratory. DNA-probes contain repeated sequence of bases
complementary to those on VNTRs. These probes are made radioactive by labeling with
radioactive isotopes. The radioactive DNA-probes bind to the repeat sequences on the nylon
membrane.
7. An X-ray film is exposed to the nylon membrane to mark the places where the radioactive DNA
probes have bound to the DNA fragments. These places are marked as dark bands when X-ray
film is developed. This is known as autoradiography.
8. The dark bands on X-ray film represent the DNA fingerprints (= DNA profiles).
APPLICATION OF DNA FINGERPRINTING
i. Like skin finger printing (dermatoglyphic), DNA finger printing can help to distinguish one
human being from another with exception of monozygotic twins. Paternity maternity disputes can
be solved by DNA fingerprinting.
ii. It provides information about relationship of man with apes.
iii. It can be used to study the breeding patterns of animals facing the danger of extinctin.
iv. It is useful in restoring health of the patients suffering from the leukemia (blood cancer).
v. It is very useful in the detection of crime and legal pursuits.
vi. It can identify racial groups, their origin, historical migration and invasions.











86
 QUESTIONS FOR PRACTICE

MULTIPLE CHOICE QUESTIONS:

1. To prove that DNA is genetic material, Griffith used:
(a) Neurospora crassa (b) Drosophila melangoster
(c) Diplococcus pneumoniae (d) Escherichia coli
2. Which strain of Diplococcus pneumoniae is/are virulent?
(a) Smooth (b) Rough (c) Mutant (d) Wild
3. The phenomenon discovered by Griffith that proves DNA as genetic material is:
(a) Transcription (b) Translocation (c) Translation (d) Transformation
4. One of the following is nucleotide:
(a) Adenine (b) Adenosine
(c) Adenine monophosphate (d) Adenosine monophosphate
5. Pyrimidines present in RNA are:
(a) Cytosine and thymine (b) Adenine and guanine
(c) Cytosine and uracil (d) Thymine and uracil
6. A DNA molecule makes complete turn after every:
(a) 3.4 Å (b) 20A (c) 10 base pairs (d) 340o
7. Left handed DNA is known as:
(a) B-DNA (b) Z-DNA (c) Both are similar (d) None of these
8. DNA is:
(a) Always double stranded (b) Rarely single stranded
(c) Always single stranded (d) Rarely double stranded
9. The similarity between DNA and RNA is that both :
(a) Are double stranded (b) Have similar sugars
(c) Are polymers of nucleotides (d) Have similar pyrimidines
10. Circular DNA molecule occurs in:
(a) Viruses (b) bacteria, chloroplasts and mitochondira
(c) Bacteria and chloroplasts only (d) Bacteria only

87
11. Double helical structure of DNA molecule is due to:
(a) Hydorgen bonds between purines and pyrimidine bases
(b) Linkage between phosphate and pentose suagar
(c) Parallel arrangement between two polynucleotide chains.
(d) Antiparallel arrangement of two polynucleotide chains
12. What is the type of coiling in DNA?
(a) Right handed (b) Left handed (c) Zig-zag (d) Opposite
13. Ligase – an enzyme is used for:
(a) Joining bits of DNA (b) Splitting DNA thread into small bits
(c) Denaturation (d) None of the above
14. Phosphoric esters of nucleosides are known as:
(a) Phosphoric acids (b) Nucleic acids (c) Nuclein (d) Nuclotides
15. Which of the following is the smallest RNA?
(a) mRNA (b) rRNA (c) tRNA (d) Chromosomal RNA
16. DNA synthesis is known as:
(a) Transformation (b) Transduction (c) Transcription (d) Replication
17. Distance between the two base pairs of DNA is:
(a) 3.4 Å (b) 34 Å (c) 340 Å (d) 3400 Å
18. Genetic information of an organism lies in:
(a) Nucleotides sequence (b) Sugars (c) Bonds (d) None
19. The protein which helps to unwind DNA double helix during replication is:
(a) DNA polymerase (b) DNA gyrase (c) Helicase (d) DNA topoisomerase
20. Small fragments of DNA synthesized during replication of DNA are called:
(a) Nucleotides (b) Genes (c) Okazaki fragments (d) Single standard DNA
21. DNA replication is not:
(a) Semi-conservative (b) Conservative (c) Enzymatic (d) Directional
22. The enzyme not associated with DNA replication is:
(a) Polymerase (b) Helicase (c) Topoisomerase (d) Transcriptase
23. How many ribosomes are required for translation of one molecule of protein?
(a) One (b) Two (c) As many codons (d) Many
24. Intron part of DNA codes for:
(a) Carbohydrate (b) Lipid (c) Polypeptide (d) None

88
25. A nonsense condon is:
(a) UAG (b) UAA (c) Both a and b (d) UUU
26. The peptide bonds are present between:
(a) Nucleic Acids (b) Organic acids (c) Fatty acids (d) Amino acids
27. After reaching the cytoplasm the mRNA attaches itself to:
(a) 40 S particle of ribosome (b) 60 S particle of ribosome
(c) 70 S ribosome (d) Endoplasmic reticulum
28. The process by which DNA of nucleus passes information to RNA is called:
(a) Translocation (b) Transcription (c) Translation (d) Transduction
29. The minimum length of cistron in base pairs which synthesis a polypeptide of 50 amino acids is:
(a) 50 bp (b) 100 bp (c) 150 bp (d) 200 bp
30. Which of the following statements about genetic code is correct?
(a) It is triplet, universal ambiguous and degenerate
(b) It is triplet, universal, non-ambiguous and degenerate
(c) It is triplet, universal, ambiguous and non-degenerate
(d) It is triplet, universal, non-ambiguous and non-degenerate.
31. The term ‘gene’ was introduced by:
(a) Mendel (b) Johannsen (c) Morgan (d) Bateson
32. mRNA is synthesized over DNA template in the direction:
(a) 5  3 (b) 3  5 (c) Both a and b (d) Depends on DNA strand.

33. Okazaki fragments are:

(a) RNA primers (b) Short DNA fragments on lagging strand
(c) Short DNA fragment on leading strand (d) DNA fragments from radiation.
34. In genetic code dictionary codons used to code for all the 20 essential amino acids are:
(a) 20 (b) 60 (c) 61 (d) 64
35. Termination codon which stops further addition of amino acids to the polypeptide chain is:
(a) AAU (b) GUG (c) AUG (d) UAG
36. All the termination codons begin with the nucleotide of:
(a) Adenine (b) Uracil (c) Guanine (d) Cytosine
37. Which of the following types of RNA occurs in largest amounts amongst cell RNAs?
(a) mRNA (b) tRNA (c) sRNA (d) rRNA

89
38. The enzyme which catalyse the formation of RNA from DNA template is known as:
(a) Reverse transcriptase (b) RNA polymerase
(c) DNA polymerase (d) Nuclease
39. DNA differs from RNA
(a) In the nature of sugar alone (b) In the nature of purines alone
(c) In the nature of sugar and pyrimidines (d) None of the above
40. The following is needed for DNA replication:
(a) DNA polymerase and DNA ligase (b) RNA polymerase and translocase
(c) DNA polymerase only (d) DNA ligase only
41. DNA generally acts as a template for the synthesis:
(a) Only proteins (b) Only DNA (c) Only RNA (d) Both DNA and RNA
42. The strand of DNA which is synthesized continuously during replication is called:
(a) Leading strand (b) Lagging strand (c) Sense strand (d) Antisense strand
43. Non-genetic RNA is of:
(a) Two types (b) Three types (c) Only one type (d) None of these
44. DNA replication is:
(a) Conservative (b) Non-conservative (c) Semi-conservative (d) constitutive
45. The successive nucleotides of RNA are covalently linked through:
(a) Glycosidic bonds (b) Phosphodiester bonds
(c) Hydrogen bonds (d) None of these
46. What is the similarly between RNA and DNA?
(a) Both have same sugars (b) Both have same pyrimidines
(c) Both can replicate (d) None of these
47. The type of RNA specially responsible for the proper sequence of amino acids in protein synthesis
is:
(a) Ribosomal RNA (b) Messanger RNA (c) Transfer RNA (d) Chromosomal RNA
48. During transcription, the DNA site as which RNA polymerase binds is called:
(a) Promoter (b) Regulator (c) Receptor (d) Enhancer
49. Lac operon and tryptophan operon are the models of gene expression in:
(a) Bacteria (b) Viruses (c) eukaryotes (d) All of the above
50. An environmental agent that triggers transcription from an operon is a:
(a) Derepressor (b) Inducer (c) Regulator (d) Controlling element

90
51. In split genes, the coding sequences are called:
(a) Cistrons (b) Operons (c) Exons (d) Introns
52. DNA replication:
(a) Starts at 5 end of chromosome (b) Adds nucleotides in 3  5 order in new chain.
(c) In 5  3 order in leading strand (d) Both (a) and (b)
53. Which form of RNA has a structure resembling clover leaf?
(a) tRNA (b) rRNA (c) hnRNA (d) mRNA
54. Genetic code was discovered by:
(a) Nirenberg and Methaei (b) Holley and Nirenberg
(c) Holley, Nirenberg and Khorana (d) None of these
55. The gene that functions in the production of repressor molecule is:
(a) Structural gene (b) Regulator gene (c) Operator gene (d) Operon
56. DNA elements which can switch their position are called:
(a) Introns (b) Exons (c) Transposons (d) Cistorns
57. The operator gene of lac operon is ‘turned on’ when lactose molecules bind to:
(a) mRNA (b) promoter site (c) Repressor protein (d) Operator gene
58. The synthesis of the enzymes b-galactosidase permease and transcetylase is stimulated by:
(a) Their receptive substrates (b) Co-represser
(c) Lactose (d) Trypotphan
59. During feedback inhibition which factor is responsible?
(a) Substrate (b) Enzyme (c) End product (d) Temperature
60. This is not produced by E.Coli in the lactose medium:
(a) Lactose dehydrogenase (b) thiogalactoside transacetylase
(c) p-galactosidase (d) Lactose permease
61. Genes that are involved in turning on or off the transcription of a structural genes are called:
(a) Polymorphic genes (b) Regulator genes
(c) Redundant genes (d) Operator genes
62. The operon model of gene regulation and organization in prokaryotes was proposed by:
(a) Jocob and Monod (b) Beadle and Tatum
(c) Meselson and Franklin (d) Wilkins and Franklin
63. Which one of the following is not a component of Lac-operon model?
(a) Promoter gene (b) Structural gene (c) Primer gene (d) Regulator gene

91
64. What does ‘lac’ refer to in what we call the lac operon?
(a) Lactose (b) Lactase (c) Lac insect (d) The number 1,00,000
65. The sequence of structural gene in lac operon concept is:
(a) Lac A, lac Y, lac Z (b) Lac A, Lac Z, Lac Y
(c) Lac Y, Lac Z, Lac A (d) Lac Z, Lac Y, Lac A
66. During transcription, RNA polymerase holoenzyme binds to a gene promoter and assumes a
saddle like structure. What is its DNA biding sequence?
(a) AATT (b) CACC (c) TATA (d) TTAA
67. The two polynucleotide chains in DNA are:
(a) Discontinuous (b) Antiparallel (c) Semi conservative (d) Parallel
68. A codon consists of 3 bases and there are of 4 different kinds of bases in a nucleic acid altogether.
How many codons will be there?
(a) 64 (b) 86 (c) 22 (d) 60
69. t-RNA consisting of three unpaired based constitute:
(a) Condon (b) Anticondon (c) Clover-leaf model (d) Acceptor loop
70. The binding site of t-RNA with m-RNA and amino acid respectively are:
(a) mRNA with DHU loop and amino acid with CCA end.
(b) mRNA with CCA end and amino acid with anticodan loop.
(c) mRNA with anticodon loop and aminoacid with DHU loop.
(d) mRNA with anticodon loop and aminoacid with CCA
71. Genes are made up of:
(a) DNA, RNA and Protein (b) DNA and RNA
(c) Only RNA (d) Only DNA
72. Some viruses have RNA but no DNA indicates that:
(a) They have no hereditary information
(b) RNA can transfer genetic information
(c) Their nucleic and must combine with host DNA to replicate
(d) They cannot replicate
73. “House Keeping genes” means:
(a) Dormant genes but work when necessary
(b) Genes control characters of organisms
(c) Genes acts against cell interference
(d) Genes whose function is essential for maintaining cellular activity.

92
74. According to Benzer unit of function of gene refers to :
(a) Muton (b) Recon (c) Cistron (d) None
75. AUG codes for:
(a) Arginine (b) Metionine (c) Phenylalanine (d) Lysine
76. The semiconservative mode of replication was confirmed by:
(a) Meselson and Stahl (b) Waston and Crick
(c) Robert Hooke (d) Jacob and Monad
77. DNA is not directly involved in the synthesis of
(a) Another DNA (b) t-RNA (c) Protein molecule (d) None of these
78. DNA is present in :
(a) Nucleus only (b) Mitochondrial only
(c) Chloroplast only (d) All of these
79. Prokaryotic DNA is:
(a) Double stranded straight (b) Single stranded straight
(c) Double stranded round (d) Single stranded round
80. Which of the following is not a component of trapoperon:
(a) Structural gene (b) Regulator gene
(c) Promoter gene (d) None of these
81. Which of the following cut the DNA from specific place?
(a) Exonycleace (b) Restrictinendonucle
(c) Restriction endonuclease (d) None of these
82. Out of 64 codons 61 codons codes for 20 aminoacid which is called:
(a) Overlapping of gene (b) Universality of codon
(c) Triplet hypothesis (d) Degeneraly of genetic code
83. Cistron is:
(a) Functional unit of RNA
(b) Non – functional unit or RNA
(c) Functional unit of DNA that specifies a popypeptide chain
(d) Non – functional unit of DNA
84. After reaching the cytoplasm the mRNA attaches itself to:
(a) 40 S particle of ribosome (b) 60S particle of ribosome
(c) 70 S ribosome (d) Endoplasm reticulum

93
85. When lactose is present:
(a) The repressor is able to bind to the operator
(b) The repressor is unable to bind to the operator
(c) Transcription of lac Y, lac Z and lac a genes occurs
(d) Both (b) and (c) are correct
86. In a codon woobling is restricted to:
(a) First nitrogenous base (b) Second N base
(c) Third N base (d) None of these
87. Genes that are involved in turning on or off the transcription of structural genes are called:
(a) Polymorphic genes (b) Operator genes
(c) Redundant genes (d) Regulatory gases
88. In the operon concept, the regulator gene regulates cell reaction by:
(a) Inhibiting transcription of mRNA (b) Inactivating enzymes in the reaction
(c) Inhibiting substrate in the reaction (d) Inhibiting the migration of mRNA in cytoplasm
89. Which of the following statements about genetic code is correct?
(a) It is triplet, universal ambiguous and degenerate
(b) It is triplet, universal, non – ambiguous and degenerate
(c) It is triplet, universal, ambiguous and non – degenerate
(d) It is triplet, universal, non – ambiguous and non – degenerate
90. A bacteriophage with radioactive DNA and protein when infects a bacterium the radioactivity
inside the bacterium will be located:
(a) In DNA (b) In protein
(c) Both DNA and protein (d) In all parts of bacterial cell
91. The triplet UUU codes for:
(a) Leucine (b) Methionine (c) Phenylalanine (d) Glycine
92. Recipient of Nobel prize for DNA double helical:
(a) Watson and Crick (b) Khoranna and Nirenberg
(c) Kornberg and Ochoa (d) Beadle and Tatum
93. After a mutation at a genetic locus the character of an organism changes due to the change in:
(a) Protein structure (b) DNA replication
(c) Protein synthesis pattern (d) RNA transpiration pattern

94
94. Gene which is responsible for the synthesis of a polypeptide chain is called:
(a) Operator gene (b) Regularly gene
(c) Promoter gene (d) Structural gene
95. During protein synthesis in an organism, at one point the process comes to a halt. Select the group
of the three codons from the following, from which any one of the three could bring about this
halt.
(a) UUU, UCC, UAU (b) UUC, UUA, UAC
(c) UAG, UGA, UAA (d) UUG, UCA, UCG
96. In the operon system, the repressor protein can bind only with the:
(a) Structural genes (b) Regulatory gene
(c) Operator gene (d) Promoter gene
97. All the termination codons begin with the nucleotide of:
(a) Adenine (b) Uracil (c) Guanine (d) Cytosine
98. Length of mRNA that carries information for complete polypeptide synthesis is:
(a) Muton (b) Codon (c) Operon (d) Cistron
99. Okazaki fragments are associated with which phenomenon?
(a) Translation (b) Replication of DNA
(c) Transcription (d) Reverse transcription
100. The concept of one gene – one enzyme was proposed by:
(a) Beadle and Tatum (b) Watson and Crick
(c) Corners (d) Leeuwenhoek
101. Cell / organism carrying mutated gene is:
(a) Cistron (b) Mutant (c) Muton (d) Recon
102. Nitrogenous bases do not contain:
(a) Hydrogen (b) Nitrogen (c) Carbon (d) Phosphorus
103. Polysome is formed by:
(a) A ribosome with several subunits
(b) Ribosome attached to each other in a linear arrangement
(c) Several ribosome attached to a single mRNA
(d) Many ribosomes attached to a standard of endoplasmic reticulum

95
01. In split genes, the coding sequences are ……………..
(a) introns (b) operons (c) exons (d) cistrons
02. The smallest part of the gene is called ……………..
(a) recon (b) muton (c) exon (d) cistron
03. The enzyme referred to as Kornberg enzyme is …………..
(a) DNA polymerase I (b) DNA polymerase II
(c) RNA polymerase (d) ligase
04. The polymerase that has 5′ to 3′ exonuclease property is known as ……………..
(a) DNA pol I (b) DNA pol II (c) RNA pol (d) DNA ligase
05. The termination factor that recognises the termination codon UAG is …………
(a) Only RF (b) only RF2 (c) both RF1 & RF2 (d) neither RF1 and RF2
06. The enzyme that removes formyl group from the first amino acid methiomine of a newly
synthesized polypeptide is …………….
(a) RF3 (b) translocase (c) deformylase (d) exoaminopeptidase
07. The word gene was coined by ………...
(a) Garrod (b) Johannsen (c) Meischer (d) Griffith
08. In1869, …………. discovered DNA.
(a) Garrod (b) Meischer (c) Griffith (d) Wilkins
09. The virulent, Pneumococcus possessed a ……….. coat for its protection.
(a) Protein (b) Lipid (c) phospholipid (d) Polysaccharide
10. Complete sequence of amino acids in …………. was proposed by Sanger.
(a) Insulin (b) haemoglobin (c) kinetin (d) polymerase
11. RNAs lack …………… as nitrogenous base.
(a) Adenine (b) guanine (c) cytosine (d) Thymine
12. One complete turn of B-DNA contains …………… number of nitrogenous bases.
(a) 10 (b) 11 (c) 9 (d) 12
13. The most stable form of RNA is ………….. RNA.
(a) messenger (b) transfer (c) ribosomal (d) small nuclear
14. When a codon codes for more than one amino acid, it is called …….. code.
(a) Commaless (b) degenerate (c) nonsense (d) universal
15. The start codon is ………….
(a) UAA (b) UGA (c) AUG (d) UGA

96
II. Correct the Statements:
1. Griffith discovered bacterial transformation in Escherichia coli.
2. The two chains of DNA molecule run in the same direction.
3. Semiconservative type of DNA replication was postulated by Meselson and Stahl.
4. Elongation of new DNA strand on the old template strand is catalyzed by the enzyme DNA gyrase.
5. Okazaki fragments are formed on both leading and lagging strands.
6. Prokaryotic mRNA is monocistronic.
7. The thymine-adenine-rich region of the eukaryotic promoter which is recognized by the RNA
polymerase is called initiation site.
8. In case of eukaryotes, the primary transcript undergoes editing which involves removal of non-
coding sequences and joining of coding sequence.
9. Genetic code is non-ambiguous as more than one triplet codon can specify one amino acid.
10. Some genes are constantly needed to be expressed as their products are continuously used for
metabolic activities in a cell, these are called constant genes.
11. In case of repression the genes remain switched on until the product is accumulated in the cell.
12. In an operon, the structural genes are regulated as a unit by a single regulator.
01. Watson and Griffith proposed double helical structure of DNA.
02. A nucleoprotein is building block of all nucleic acids.
03. The strand of the DNA double helix represent nucleotide phosphate backbone and are antiparallel.
04. The helical turns are right handed is DNA.
05. Avery, McCarty and Maclead experimentally proved that the transforming principle isaprotein.
06. rsAeischer proposed the transforming principle.
07. The enzyme, ligase is responsible for transcription.
08. The operator is under the control of a repressor molecule synthesized by sfructural gene which is
not a part of operon.
09. The example of regulatory gene is genes of respiratory enzymes.
10. P-site in prokaryotes only accepts tRNAmet.
11. The coding or translatable sequences are introns.
12. The structural genes transcribe tRNA and rRNA.
13. A Primer is a small DNA or RNA strand hydrogen bonded to a template.
14. In DNA replication as per semiconservative model, two new strands synthesized, form new DNA
molecules.

97
III. Fill in the blanks:
1. _______________ are the enzymes which unwind DNA.
2. New strands of DNA are formed only in the _______________ direction.
3. The unidirectional flow of genetic information from DNA →RNA→Protein is referred to as the
________________ in molecular biology.
4. __________________ is the process in which information is carried from DNA to RNA.
5. Frederich Griffith discovered the phenomenon called _____________________.
6. Okazaki fragments are formed on ___________________ strand of replicating DNA.
7. Clover leaf structure is shown by ______________________.
8. The gene whose expression is regulated is ______________________ gene.
9. Termination codons are called Ochre, Amber and ___________________.
10. Determination of hereditary characters by the DNA is due to the arrangement of its __________.
11. Split gene is seen in ______________________.
12. The DNA molecule takes a complete turn after every ________________ base pairs.
13. A nucleotide consists of a ____________________, a _________________ and a nitrogen base.
14. The experiment on DNA using 15N isotope proved that its replication is ___________________.
15. A sequence of three nitrogen bases that code for an amino acid is a _____________________.
16. _____________ is a segment of DNA strand on which a new strand is produced.
17. One-gene one enzyme concept is now more accurately referred to as one _______________ one
__________________ concept.
18. ______________________ in RNA replaces thymine in DNA.
19. _____________________ has the shape of clover-leaf.
20. Nucleicacid was discovered by ____________.
21. The sugar present in D.N.A. is __________________.
22. The adjacent nucleotide of DNA is joined by __________________ bond.
23. Activation of aminoacid in protein synthesis requires ___________________.
24. Aminoacyl synthetase enzyme take part in _______________________.
25. _______________________ codens code for only one aminoacid.
26. A small strand of RNA is synthesized by ______________ during replication.
27. Enzyme necessary for transcription __________________ RNA polymerase.

98
28. DNA is found in ____________, ______________, ______________ of a eukaryotic cell.
29. Doulde helical DNA of Watson and crick is ____________________ handed.
30. RNA polymenase acts in the direction _______________________.
31. Semiconservative replication of DNA was experimentally given by _______________ and stahl.
32. 2 strands of DNA are ounded by _____________________ bond.
33. Operon model as a controlling mechanism in bacteria was given by _____________ and monard.
34. Term gene was given by _____________________________.
35. Information piece of split genes are __________________________.
36. Genetic code was discovered by ____________________ and mathaei. Narinberg.
37. RNA is responsible for proper sequence of amino acid _______________________.
(i) The enzyme ______ hydrolyses DNA molecules.
(ii) Clover leaf model of tRNA was proposed by _______.
(iii) The segment of DNA that expresses specific character is called _______.
(iv) The enzyme ________ helps to join nucleotides.
(v) The DNA strand which takes part in transcription is called —
(vi) VAGisa _______ codon.
(vii) The gene which becomes active due to the presence of specific substance is called _______ gene.
(viii) To identify criminals DNA ________ is done.
IV.Express One technical words:
1. A set of three nucleotides on tRNA responsible for attachment of the tRNA with mRNA at
specific codon.
2. RNA molecules formed inside the nucleus of eukaruyotes (i.e., prior to modification)
3. Removal of introns and joining of exons in eukaryotic RNA.
4. The process of formation of proteins on mRNA.
5. Unidirectional flow of information from DNA → RNA → Protein.
6. The complex of several enzymes and other protein factors which act in a coordinated way for
DNA replication.
7. Short discontinuous segments of DNA formed during replication.
8. Process of formation of RNA on DNA strand.
9. The coding sequence of eukaryotic gene.

99
10. Structural genes and their operator.
11. A set of three nucleotides that codes for an amino acid.
12. The strand of DNA synthesized discontinuously.
13. Which RNA is the smallest?
14. How many codons for amino acid?
15. Enzyme responsible for polymerization.
16. Synthesis of protein from DNA via RNA.
17. Functional unit of DNA.
18. Lac operon is turned on lactose molecule bind to repressor.
01. If in a double standed DNA, there is 25 per cent of thymine, then calculate the percent of guanine.
02. What is the complementary base of Adenine in RNA ?
03. In a double helix, if one stand is on 5′ — 3′, what will be arrangement of other strand ?
04. What are the basic proteins called in eukaryotic DNA ?
05. What is called to amino acids with more than one codon ?
06. What type of genes do express continuously ?
07. What type of RNAs do carry amino acids to the site of protein syntheses ?



MODEL ANSWER
100
Short Notes On:
1. Transcription:

 The process by which of RNA is formed from one strand of DNA is called transcription.

 At first of RNA Polymerase attaches to the Tata Box of DNA with the help of Sigma factor.

 Elongation of RNA Polymerase 5 - 3 direction with a speed if 40-50 nucletides per second.

 Termination of m-RNA synthesis takes place with the help of Rho (  ) factor at terminal region

which is rich in Adenine and Thyamine incase of Eukaryotic Cell and Cytocine and Uracil in case
of Prokaryotic cell.
2. Operon:

 Group of genes which regulate the gene expression is called operon.

 This operon model was proposed by Jacob & Monad on 1961.

 An operon is made up of structural genes, regulator genes, promoter genes & operator genes.

 Operon two types:

i. Inducible operon e.g lac operon always in switch off mode inducer make it switch on.
ii. Repressible operon e.g. Tryptophan operon always in switch on mode over production of end
product makes it switch off.
3. Genetic code:

 It is the relationship between the sequence of nitrogenous bases (U, C, A, G) in mRNA &
sequence of amino acid in a polypeptide chain.

 It is the dictionary of genetics language used by the cell system for the synthesis of proteins which
discovered by Nirenberg & mathaei in 1961.

 In genetic code 64 codens are present among which initiation coders are AUG & GUG, 3 codens
are non-sense coders or (UUA, UAG, UGA) so 61 codens are coded for the 20 amino acids.

 Each coden is a triplet, non-overlapping, comma less, universal.

 Genetic codes are arranged linearly in 5 3 direction on the DNA or m-RNA.

 Genetic code is degenerate: i.e. one amino acid is coded by more than one coden & non
ambiguous i.e. one codon codes for one amino acid.
4. Split Gene:

101
  The gene that consists of coding region (exons) as well as non-coding regions (introns) is called
as split gene.
 These are present in eukaryotes.
 These are discovered by R.J Roberts & Phillip. (1977)
 The hnRNA transcribed from DNA forms mRNA to undergo splicing (removal of introns) has
before subjected to translation.
 The information on the eukaryotic gene for synthesis of a protein is not continuous but split.
DNA Fingerprinting
 Dr. Alec Jeffreys developed the technique of DNA fingerprinting in an attempt to identify DNA
marker for inherited disease.
 DNA fingerprinting uses short nucleotide repeats called Variable Number Tandem Repeats
(VNTRs) as markers. VNTRs vary from person to person and are inherited from one generation to the
next. Only closely related individuals have similar VNTRs.
Methodology and Technique
(i) DNA is isolated and extracted from the cell or tissue by centrifugation.
(ii) By the process of polymerase chain reaction (PCR), many copies are produced. This step is called
amplification.
(iii) DNA is cut into small fragments by treating with restriction endonucleases.
(iv) DNA fragments are separated by agarose gel electrophoresis.
(v) The separated DNA fragments are visualized under ultraviolet radiation after applying suitable
dye.
(vi) The DNA is transferred from electrophoresis plate to nitrocellulose or nylon membrane sheet.
This is called Southern blotting.
(vii) Probes are now added which bind to specific nueleotide sequencs that are complementary to them.
This is called hybridisation.
(viii) The hybridised DNA fragments are detected by autoradiography. They are observed as dark bands
on X-ray film.
Application :
(i) Paternity & maternity disputes can be solved by DNA fingerprinting.
(ii) It is very useful in the detection of crime & legal pursuits.

Human Genome Project (HGP)

102
 The total cost of the project was 9 billion US dollars and an enormous amount of data was generated.
Therefore, it is called a mega project.
 The human genome project was a 13 year project by the U.S. Department of Energy and the National
Institute of Health. It was launched in 1990 and completed in 2003.
 During the early years of the HGP, the Wellcome Trust (U.K.) became a major partner and additional
contributions came from Japan, France, Germany and China.
 HGP was closely associated with development of a new area in biology termed bioinformatics.
Goals of HGP
(i) To identify the 20,000 —25,000 genes in human DNA.
(ii) To store the above information in databases.
(iii) To improve the tools for data analysis.
Advantages of HGP
(i) Provides clues to understand human biology.
(ii) More information can be obtained about non-human organisms like bacteria, yeast, nematode,
fruit fly, plant, rice, etc.
Methodologies of HGP
The methods involve two major approaches :
(i) Expressed sequence tags (ESTs): This method focuses on identifying all the genes that are
expressed as RNA.
(ii) Sequence annotation : It is an approach of simply sequencing the whole set of genome that
contains all the coding and non-coding sequences, and later assigning different regions in the
sequence with functions.
 For sequencing, the total DNA from cell is first isolated and broken down in relatively small sizes as
fragments.
 These DNA fragments are cloned in suitable host using suitable vectors. When bacteria is used as
vector, they are called bacterial artificial chromosomes (BAC) and when yeast is used as vector,
they are called yeast artificial chromosomes (YAC).
 Frederick Sanger developed a principle according to which the fragments of DNA are sequenced by
automated DNA sequences.
 On the basis of overlapping regions on DNA fragments, these sequences are arranged accordingly.
 For alignment of these sequences, specialised computer-based programmes were developed.
 Finally, the genetic and physical maps of the genome were constructed by collecting information

103
 about certain repetitive DNA sequences and DNA polymorphism, based on endonuclease recognition
sites.
PLEIOTROPY
 It is the phenomenon in which a single gene exhibits multiple phenotypic expression.
 The pleiotropic gene affects the metabolic pathways, resulting in different phenotypes.
 For example. phenylketonuria is caused by mutation in the gene coding for the enzyme phenylalanine
hydroxylase. The affected individuals show mental retardation, hair and skin pigmentation as well.
 Somatic (diploid) cell there must be 2 genes of each kind, one in each of 2 homologous
chromosomes.
i. Differences Between Replication & Transcription
REPLICATION TRANSCRIPTION
1. It occurs in S phase of cell cycle. 1. It occurs in G1 and G2 of cell cycle.
2. Catalyzed by DNA polymerase enzyme. 2. Catalyzed by RNA polymerase enzyme.
3. It take place on both the strand of DNA. 3. It takes place along one strand of DNA.
4. It involves copying of entire genome. 4. It involves copying of certain individual
genes only.
5. Two double stranded DNA molecules are 5. Only one RNA molecule is formed from a
formed. segment of one DNA strand.
6. Products remain within the nucleus. 6. Greater part of the product pass from the
nucleus to cytoplasm.
7. Products are not degradable. 7. Products are degradable after their function
is over.

Differences Between Protein Synthesis of Prokaryote & Eukaryote.

PROKARYOTIC TRANSCRIPTION EUKARYOTIC TRANSCRIPTION
1. It occurs in contact with cytoplasm. 1. It occurs inside the nucleus.
2. Products of transcription become effective in 2. Products of transcription come out of the
situ. nucleus for functioning in cytoplasm.
3. There is only one RNA Polymerases. 3. There are three types of RNA polymerases.
4. RNA polymerase does not have separate 4. Transcription factors are involved in
transcription factors. recognition of promoter site.

104
5. mRNA is generally polycistronic. 5. mRNA is generally monocistornic.
6. An enhancer is usually absent. 6. An enhancer may be present along with
promoter.
7. Splicing is generally not required. 7. In most of the cases splicing is required for
removing intervening sequences.
PROKARYOTIC TRANSLATION EUKARYOTIC TRANSLATION
8. Ribosome is 70s type. 8. Ribosome is 80s type.
9. N-formyl methonine is the initiating amino 9. Formal methionine initating amino acid.
acid.
10. In Prokaryotic mRNA has multiple start site. 10. In Eukaryotic mRNA has only one start.
11. There are 3 initiations factors are required for 11. Several initiation factor are involved in chain
chain initiation. initiation.
Differences Between Leading Strand and Lagging Strand
Sl. Sl.
LEADING STRAND LAGGING STRAND
No. No.
1. It is a replicated strand of DNA which grows 1. Lagging strand is a replicable strand of DNA
continuously without any gap. which is formed in short segments called
Okazaki fragments. Its growth is
discontinuous
2. It does not require DNA ligase for its growth. 2. DNA-ligase is required for joining Okazaki
fragments.
3. The direction of growth of the leading strand 3. The direction of growth of the lagging strand
is 5  3. is 3  5 through in each Okazaki fragment
it is 5  3.
4. Only a single RNA primer is required. 4. Starting of each Okazaki fragment requires a
new RNA.
5. Formation of leading strand is quite rapid. 5. Formation of lagging strand is slower.
6. Its template opens in 3  5 direction. 6. Its template opens in 5  3 direction.
7. Formation of leading strand begins 7. Formation of lagging strand begins a bit later
immediately at the beginning of replication. than that of leading strand.
Differences Between Induction & Repression
Sl. INDUCTION/ Sl. REPRESSION/
No. INDUCIBLE OPERON No. REPRESSIBLE OPERON

105
1. It starts transcription and translations, hence 1. It stops transcription and translation, hence
turns the operon on. terms the operon off.
2. It acts in a catabolic pathway. 2. It acts in an anabolic pathway.
3. This process is induced by the substrate 3. The process is repressed due to excess
which requires enzymes to get metabolized. accumulation of metabolite or Product.
4. Repressor is inactivated by inducer and 4. Repressor in activated by a corepressor to
inhibited to combine with operator. Eg: Lac combine with operator. Eg: trp operon
operon.

Difference between DNA polymerase and RNA polymerase

S.N. DNA POLYMERASE S.N. RNA POLYMERASE
1. It takes part in replication. 1. It takes part in transcription.
2. For its activity it requires a primer. 2. It does not require a primer.
3. It is useful for both the strands of DNA. 3. It acts on only the template strand of DNA.
4. It uses deoxyribonucleorides – dA dT dG 4. It uses ribonucleotides – AUGC.
dC.
5. It can perform proof reading. 5. Proof reading is absent.

Difference between Transcription and Translation

S.N. TRANSCRIPTION S.N. TRANSLATION
1. It is the synthesis of RNA from DNA. 1. It is the synthesis of protein from m-RNA
with the help of ribosome.
2. It occurs inside the nucleus in eukaryotes 2. It occurs in the cytoplasm in both
and in cytoplasm in prokaryotes. prokaryotes and eukaryotes.
3. The DNA coded information is transferred 3. The coded information of m-RNA is
from DNA to m-RNA. translated or decodified into the amino acid
sequence of protein.
4. Three types of RNAs are produced i.e., m- 4. Here proteins are produced each consisting
RNA, r-RNA and t-RNA. of 20 different types of amino acids.
5. The antisense strand of DNA is the template 5. The m-RNA is the template for translation.
for transcription.
6. It requires RNA polymerase or transcriptase 6. It requires peptidyl transferase and
enzyme. translocase enzymes.
7. The initiation factor is sigma factor in 7. There are 3 types of initiation factors in
prokaryotes and transcription factors in prokaryotes and 9 types of eukaryotes.
eukaryotes.
8. The release factor is rho () factor. 8. There are 3 release factors (RF1, RF2 and
RF3) in prokaryotes and one release factor
(eRF) in eukaryotes.

106
 9. No elongation factor is reported. 9. Elongation fators (3 in prokaryotes and 2 in
eukaryotes) are associated with translation.
10. RNA polymerase moves along the template 10. Ribosome moves along the m-RNA in
strand of DNA in 35 direction 53 direction.

Difference between Back Cross and Test Cross

Back Cross Test Cross

1. It is the breeding of F1 hybrid with one of the 1. It is the breeding of dominant phenotype
parents. with its recessive phenotype.
2. Back cross of F1 hybrid with the recessive 2. All the crosses are back crosses.
phenotype can be considered as a test cross.
3. F1 hybrid is crossed with either homozygous 3. The F1 hybrid is crossed with recessive
dominant or heterozygous genotypes in genotype in test cross.
backcross.
4. Back cross recovers the elite genotype. 4. Test cross identifies the zygosity of the
dominant phenotype.













BUREAU’S QUESTIONS

107
 GROUP – A
Multiple Choice Type Questions.
1. The genes involved in turning on or off the transcription of a set of structural genes are called :
(a) Polymorphic genes (b) Operator
(c) Repressor (d) Regulatory genes
2. The DNA of E.coli is :
(a) Single stranded & circular (b) Single stranded & linear
(c) Doub1e stranded & circular (d) double stranded & linear
3. In split genes, the coding sequences are :
(a) Introns (b) operons (c) Exons (d) cistrons
4. The smallest part of a gene that can mutate is :
(a) Recon (b) Muton (c) Exon (d) Cistron
5. Tryptophan operon is an example of :
(a) Inducible system (b) Repressible system
(c) House keeping (d) split genes
6. DNA replicating enzyme DNA polymerase :
(a) Cut the helix at certain places (b) Used for proof reading
(c) Adds carbonyl compound (d) Breaks and joins pieces of DNA strand
7. The enzyme referred to as Kornberg enzyme is :
(a) DNA polymerase I (b) DNA polymerase II
(c) RNA polymerase (d) DNA ligase
8. The polyrnerase that has 5 to 3 exonuclease property is :
(a) DNA pol I (b) DNA pol II (c) RNA pol (d) DNA ligas
9. The termination factor that recognizes the termination condon UAG is :
(a) only RF (b) only RF2 (c) both RF1 & RF2 (d) neither RF1 and RF2
10. The enzyme that removes formyl group from the first aminoacid methionine of a newly
synthesized polypeptide is :
(a) RF1 (b) Translocase (c) deformylase (d) exoamino peptidase
Fill in the blanks :
01. ________ and ________ proposed the double helical structure of DNA.
02. A _______ is the building block of all nucleic acid.

108
03. The phosphate is removed from a nucleotide to result in a _________.
04. The strands of the DNA double helix represent ________ back bone.
05. The helical turns arc left handed in ________ DNA.
06. ________ proposed the transforming principle.
07. ________, ________ and _______experimentally proved that the ‘transforming principle’ is
DNA.
08. _________ & __________ proposed the operon concept.
09. The genes that arc continually expressed in a cell are called _______ gene.
10. __________ enzyme is responsible for transcription.
11. _________ is the RNA polymerase binding site on DNA.
12. The repressor binding site is known as _________.
13. The translation product of the regulator gene is ____________.
14. The DNA strand used to synthesize RNA is __________.
15. The DNA strand that is copied as RNA is ________ strand.

GROUP – B
Write notes on:
1. Inducible operon 6. RNA splicing
2. Repressible operon 7. Termination of translation
3. House keeping genes 8. Intrinsic termination of transcription
4. Adapter molecules 9. Okazaki fragments
5. Split genes 10. Central dogma

GROUP – C
Long Answer Type Questions :
1. Give evidences for DNA as the genetic material.
2. Describe the structure of DNA. Add a note on different forms of DNA.
3. Explain the words ‘complementary’ and ‘anti-parallel’ with reference to the structure of DNA.
4. Describe the semi-conservative mode of DNA replication.
5. Explain briefly the mechanism of translation in prokaryotes.
6. Describe the process of transcription in prokaryotes.



109
 






























110