Principle of Inheritance and Variation
Principle of Inheritance and Variation
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PRINCIPLES OF INHERITANCE AND VARIATIONS
INTRODUCTION
Genetics term was given by W. Bateson.
Genetics = Collective study of heredity & Variations.
Heredity = Transmission of genetic characters from parent to offsprings.
Variation = individuals of same species have some differences, these are called variation.
Inheritance :- Process by which character are passed on from parent to progeny.
G.J. Mendel – Father of Genetics.
W. Bateson – Father of Modern Genetics.
Morgan – Father of Experimental genetics
Some importance Definition :-
1. Factor/Gene :- Unit of heredity responsible for inheritance of character and appearance of character.
3. Homozygous :- A zygote is formed by fusion of two gametes having identicle factors is called homozygote and
organism developed from this zygote is called homozygous. Ex. TT, RR, tt
4. Heterozygous :- A zygote is formed by fusion of two different types of gamete carrying different factors is
called heterozygote (Tt, Rr) and individual developed from such zygote is called heterozygous.
5. Phenotype :- It is the external and morphological appearance of an organism for a particular character.
6. Genotype :- The genetic constitution or genetic make-up of an organism for a particular character.
MENDELISM
Gregor Johann Mendel (1822 - 1884) :- Worked on Pisum Sativum (garden pea 2n = 14)
Working year 1856-1863 (7 years)
Paper : Experiment in plant hybridization
In 1900, Mendel's postulates were rediscovered by three scientists independently. ie.
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Mendel's work : Mendel studied 7 characters or 7 pairs of contrasting traits.
Petal
Stigma
Anther
Stamen
Carpel
Removel of anthers
(Emasculation)
Parent Parent
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Transter of Pollen
(Pollination)
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MONOHYBRID CROSS
When we consider the inheritance of one character at a time in a cross.
Tt F1 (Heterozygous Tall)
Tt X Tt F1 on Selfing
Checker Board
(T) (t)
+
TT Tt
(T)
Homozygous Tall Heterozygous Tall
Tt tt
In a dissimilar pair of factors one member of the pair dominates (dominant) the other (recessive).
Tall
TT
× Dwarf
tt
During gamete formation ; the unit factors of a pair segregate randomly and transfer inside different gamete.
Each gamete receives only one factor of a pair; so gametes are pure for a particular trait. It is known as
conclusion of purity of gametes or segregation.
Tt
gametogenesis
T t
gamete gamete
– The segregation is essential during the meiotic division in all sexually reproducing organisms. (Nondisjunction
may be exception of this law).
Type of genotype = 3n
DIHYBRID CROSS
A cross in which study of inheritance of two pairs of contrasting traits.
Mendel selected traits for dihybrid cross for his experiment as follows :-
Mendel crossed, yellow and round seeded plants with green and wrinkled seeded plants.
When F1 plants were self pollinated to produce four kinds of plants in F2 generation such as yellow round,
yellow–wrinkled, green round and green wrinkled, there were in the ratio of 9 : 3 : 3 : 1.
Phenotypic ratio : round yellow : round green : wrinkled yellow : wrinkled green
9 3 3 1
No. of Phenotype = 4
Genotypic Ratio :- RRYY RrYY RRYy RrYy rrYY rrYy RRyy Rryy rryy
1 2 2 4 1 2 1 2 1
No. of Genotype = 9
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P generation
Round yello Wrinkled green
Gametes
Round yello
F1 generation
Selfing
Gametes Gametes
F2 generation
The law states that "When two pairs of trait [2 different characters] are combined in a hybrid, segregation of one
pair of character is independent of the other pair of character."
Exception : Linkage
TEST CROSS
When F1 progeny is crossed with recessive parent.
t
T Tt Monohybrid test cross ratio = 1 : 1
t tt
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[B] Dihybrid Test Cross:-
F1 - dihybrid Recessive parent
TtRr × ttrr
RT Tr Rt tr
tr TtRr Ttrr ttRr ttrr
Phenotypic Ratio = Genotypic Ratio = 1 : 1 : 1 : 1
Conclusion:- (i) In test cross phenotypes and genotypes ratio are same.
(ii) Test cross helps to find out the genotype of dominant individual.
POST MENDELISM
[1] Incomplete dominance :- P generation
Red (RR) White (rr)
F1 phenotype did not resemble either of the two
parents and was in between the two. Gametes
Example :-
[2] Co-dominance :-
F1 generation resembles both parent.
Examples :- (i) Co-dominance is seen in animals for coat colour.
when a black parent is crossed with white parent, a roan colour F 1 progeny is produced.
(ii) AB blood group inheritance (IAIB)
(iii) Carrier of Sickle cell anaemia (HbA HbS)
[3] Multiple allele :–
More than two alternative forms of same gene called as multiple allele. Multiple allele is formed due to mutation.
n ( n + 1)
If n is the number of allele of a gene then number of different possible genotype =
2
Example of multiple allele :
ABO blood group ® ABO blood groups are determined by three alleles – I A, IB, and IO
IA = dominant
IB = dominant
IO = recessive
Possible phenotypes - A, B, AB, O
3 ( 3 + 1)
Possible genotype number = = 6 genotype
2
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Blood group Genotype Antigen or Antibody or
agglutinogen agglutinin
A I I ,I I
A A A O
A b
B IBIB, IBIO B a
AB II
AB
A&B None
O IOIO none a&b
[4] Pleiotropic gene :– Gene which controls more than one character is called pleiotropic gene. This gene shows
multiple phenotypic effect.
For example :
Seed shape Size of
(i) In Pea plant : Single gene influences Seed shape
starch grain
Size of starch grain
BB Round Large
Bb Round Medium
bb Wrinkel Small
----GAG— ----GTG—
Normal Hb (A)gene Sickle-cell Hb (S)gene
----CTC— ----CAC—
Val His Leu Thr Pro Glu Glu Val His Leu Thr Pro Val Glu
1 2 3 4 5 6 7 1 2 3 4 5 6 7
HbA peptide HbS peptide
(a) (b)
Micrograph of the red blood cells and the amino acid composition of the relevant portion of b-chain of haemoglobin :
(a) From a normal individual; (b) From an individual with sickle-cell anaemia
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POLYGENIC INHERITANCE
Inheritance of characters in which one character is controlled by many genes and intensity of character depends
upon the number of dominant allele. Besides the involvement of multiple genes polygenic inheritance also takes
into account the influence of environment. In a polygenic trait the phenotype reflects the contribution of each
allele, i.e., the effect of each allele is additive.
Examples :-
(i) Human height (regulated by 5 gene pairs).
(ii) Human skin colour (regulated by 3 gene pairs).
When a Negro Black (AABBCC) phenotype is crossed with white (aabbcc) phenotype, intermediate phenotype
produced in F1 generation.
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A Comparison between the Behaviour of Chromosomes and Genes
A (Gene) B (Chromosome)
Segregate at the time of gamete formation such that only Segregate at gamete formation and only one of
one of each pair is transmitted to a gamete each pair is transmitted to a gamete
Independent pairs segregate independently of each other One pair segregates independently of another pair
Thomas Hunt Morgan and his colleagues, led to discovering the basis for the variation that sexual reproduction
produced. Morgan worked with the tiny fruit files,
Drosophila melanogaster, which were found very suitable for such studies as :-
1. They could be grown on simple synthetic medium in the laboratory.
2. They complete their life cycle in about two weeks,
3. A single mating could produce a large number of progeny flies.
4. There was a clear differentiation of the sexes – the male and female flies are easily distinguisable.
5. It has many types of hereditary variations that can be seen with low power microscopes.
AB : ab AB : ab : aB : Ab
Linkage Group : All the genes present on a chromosome collectively forms one linkage group.
Number of Linkage group = haploid no. of homologous chromosomes.
Types of Linkage :- There are two types of linkage –
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· Distance can be identified by the incomplete linkage. It's unit is centi Morgan.
1 1
Strength of linkage µ µ
Distance b/w linked gene Crossing Over
· Genetic map/Linkage map/chromosome map - In genetic map different genes are linearly arranged
according to % of crossing over (µ Distance) between them.
Morgan's student Alfred Sturtevant used the frequency of recombination between gene pairs on the same
chromosome as a measure of the distance between genes and ‘mapped’ their position on the chromosome.
yw y+ w+ w m w+ m+
Parental
yw w w
Yellow, white Wild type White, miniature Wild type
yw yw w m w m
F1 generation
+ +
y+ w+ w m
Wild type Yellow, white Wild type
Gametes
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y+ w+ y+ w w
+
m
+
w
+
m
y w y w+ w m w m+
y w y w w m w m
Yellow, white Yellow
Figure : Results of two dihybrid crosses conducted by Morgan.Cross A shows crossing between gene y and w;
Cross B shows crossing between genes w and m. Here dominant wild type alletes are represented with (+) sign
in superscript. Note : The strength of linkage between y and w is higher than w and m.
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SEX LINKAGE
When the genes are present on sex-chromosome is termed as sex linked gene and such phenomenon is known
as sex-linkage.
Types of sex linkage :-
1. X-linkage.
Genes of somatic characters are found on x-chromosome.
Example of X-linkage :-
[i] Eye colour in Drosophila :- Eye colour in Drosophila is controlled by a X–linked gene.
[ii] Haemophilia (bleeder's disease/royal's disease) :-
The gene of haemophilia is recessive and x-linked lethal gene.
On the basis of x-linked, following types of genotype are found.
Xh X = Carrier female
XhXh = Affected female
XhY = Affected male.
But, XhXh type of female dies during embryo stage because in homozygous condition, this gene becomes lethal
and causes death.
[iii] Colour Blindness (X-linked recessive) :- Due to defect in either red or green cone of eye resulting in failure to
discriminate between red and green colour.
[iv] Diabetes insipidus (recessive).
[v] Pesudoricketes (Dominant)
2. Y- linkage - The genes of somatic characters are located on Y- chromosome. The inheritance of such type of
character is only through the males. Such type of character is called Holandric character. These characters
found only in male.
Example :- (i) Gene which forms TDF /sry-gene
(ii) Hypertrichosis (excessive hair on ear pinna.)
SEX DETERMINATION
Establishment of sex through differential development in an individual at an early stage of life, is called sex
Male
parents above and
female children below
(in order of birth-left lo right)
sex unspecified
parents with male child
affected individuals affected with disease
mating
Examples :-
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(a) (b)
(a) Autosomal dominant trait (Mytotonic Dystrophy) (b) Autosomal recessive trait (Sickle Cell Anaemia)
Special Note :-
Autosomal Disorder
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EXERCISE
1. On which plant Mendel had carried out his 10. If 120 Plants are produced on crossing pure red
investigations :- and pure white flowered pea plants, than the ratio
(1) Garden - pea (2) Wild pea of offsprings will be :-
(3) Cow-pea (4) Pigeon pea (1) 90 Red : 30 White (2) 30 Red : 90 White
2. During breeding the removal of anthers from a (3) 60 Red : 60 White (4) All Red
flower is called :- 11. An individual with two identical members of a pair
(1) Anthesis (2) Pollination of genetic factors is called :-
(3) Emasculation (4) Vasectomy (1) Heteromorphic (2) Heterozygote
3. In monohybrid cross what is the ratio of homozygous (3) Homomorphic (4) Homozygote
dominant and homozygous recessive individuals in 12. Two allelic genes are located on :
F2–generation :-
(1) The same chromosome
(1) 1:2:1 (2) 2:1 / 1:2
(2) Two homologous chromosomes
(3) 3:1 / 1:3 (4) 1:1
(3) Two-non-homologous chromosomes
4. What is the genotypic and phenotypic ratio of
(4) Any two chromosomes
monohybrid test cross :-
13. When two hybrids Ttrr & Rrtt are crossed, the
(1) 1:1 (2) 1:2
phenotypic ratio of offspring shell be :-
(3) 3:1 (4) 1:2:1
(1) 3:1 (2) 1:1:1:1
5. How many types & in what ratio the gametes are
(3) 1:1 (4) 9:3:3:1
produced by a dihybrid heterozygous :-
14. How many plants are dihybrid in F 2 generation of
(1) 4 types in the ratio of 9:3:3:1
dihybrid cross :-
(2) 2 types in the ratio of 3:1
(1) One (2) Two
(3) 3 types in the ratio of 1:2:1
(4) 4 types in the ratio of 1:1:1:1 (3) Four (4) Sixteen
6. Which genotype represents a true dihybrid condition 15. When a plant have two alleles of contrasting
(1) Zygote (2) Somatic cell plant, what shall be the ratio of plants in offsprings :-
(1) All heterozygous tall
(3) Embryo (4) Gametes
(2) Two tall & Two dwarf
20. "Like begets like" an important and universal (3) 1:2:1
phenomenon of life, is due to :- (4) All homozygous dwarf
(1) Eugenics (2) Inheritance 28. In order to find out the different types of gametes
produced by a pea plant having the genotype AaBb,
(3) dominance (4) Crossing-over
it should be crossed to a plant with the genotype
21. How many types of gametes are expected from
(1) AaBb (2) aabb
the organism with genotype AABBCC:- (3) AABB (4) aaBB
(1) One (2) Two 29. Law of independent assortment of Mendel was
(3) Four (4) Eight proved by :-
(1) Monohybrid cross (2) Reciprocal cross
22. According to Mendelism which character is showing
(3) Dihybrid cross (4) Back cross
dominance-
30. If selfing occurs in the plant having genotype RrYy,
(1) Terminal position of flower then ratio of given genotype will be :- RRYY, RrYY,
(2) Green colour in seed coat RRYy, RrYy
(3) Wrinkled seeds (1) 1:2:2:4 (2) 1:2:2:1
(3) 1:1:1:1 (4) 2:2:2:1
(4) Green pod colour
31. A trihybrid cross involve three pair of characters
23. Due to the cross between TTRr × ttrr the resultant
which will give rise to the F1 hybrids which are
progenies showed how many percent plants would heterozygous for three genes. How many types of
be, tall, red flowered :– gametes will be produced in both male and female-
(1) 50% (2) 75% (1) 2 (2) 4 (3) 6 (4) 8
(3) 25% (4) 100% 32. When an F1 individual is crossed with its either of
the two parent. Then it is known as :-
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36. A pure tall and a pure dwarf plant were crossed 43. The phenotype of any character will not be affected
to produce offsprings. Offsprings were self crossed, if the modified allele produces–
then find out the ratio between true breeding tall (1) Normal enzyme
to true breding dwarf :- (2) Non-functional enzyme
(1) 1 : 1 (2) 3 : 1 (3) No-enzyme at all
(3) 2 : 1 (4) 1 : 2 : 1 (4) 2 and 3 both
37. What result Mendel would have got when he self 44. The recessive characters are –
pollinated a dwarf F2 plant ? (1) Only expressed in heterozygous condition
(2) contain information that is required to express 50. AB - Blood group shows :-
(1) Co-dominance
a particular trait
(2) Complete dominance
(3) Both 1 and 2
(3) Mixed inheritance
(4) None of the above
(4) Composite inheritance
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51. ABO blood group is an example of :- 61. A man with blood group B marries a female with
(1) Epistasis (2) Multiple allelism blood group A and their first child is having blood
(3) Pleotropism (4) Complementary genes group B. What is the genotype of child :-
52. A child is blood group is 'O'. His parents blood group (1) IAIB (2) IAIO (3) IBIO (4) IBIB
can not be :- 62. A child with mother of blood group A and father
(1) B & O (2) A & O (3) AB (4) A & B of blood group AB, will not have which of the
53. If one parent has blood group A and the other following blood group :-
parent has blood group B. The offsprings have
(1) A (2) B (3) AB (4) O
which blood group :-
63. If mother has blood group B, father has A group,
(1) AB only (2) O only
the offspring will be of :-
(3) B only (4) A, B, AB, O
(1) A (2) O
54. A child of O blood group, has B-blood group father,
(3) AB (4) any of the above
the genotype of father would be :-
(1) I0I0 (2) IBIB (3) IAIB (4) IBI0 64. Two nonallelic genes produces the new phenotype
55. A gene that shows it's effect on more than one wh en present t oget her but fail to do so
character is :- independently then it is called :–
(1) Polygene (1) Epistatisis
(2) Pleotropic gene (2) Polygene
(3) Multifactor gene (3) Non complimentary gene
(4) Multiple gene (4) Complimenatry gene
56. Blood grouping in humans is controlled by:- 65. Sickel cell anemia is the result of __________
(1) 4 alleles in which IA is dominant mutation in the haemoglobin gene :-
(2) 3 alleles in which IA and IB are dominant (1) frame shift (2) deletion
(3) 2 alleles in which none is dominant
(3) point (4) none of the above
(4) 3 alleles in which IA is recessive
66. When both alleles of a pair are fully expressed in
57. Multiple alleles are present :-
a heterozygote, theye are called :-
(1) In different chromosomes
(1) Lethals
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69. In case of ABO blood group allele IA and IB if present 78. The recessive genes located on X–chromosome in
together then – humans are always :-
(1) Ony IA allele expresses
(1) Expressed in females
(2) Only IB allele expresses
(2) Lethal
(3) Both IA and IB alleles express
(4) None of these (3) Sub–lethal
70. A colourblind man marries a normal lady whose (4) Expressed in males
father was colour blind. If it produces two sons &
79. If father shows normal genotype and mother shows
two daughters, how many of them would be suffer
(1) Both sons a carrier trait for haemophelia
(2) Both daughters (1) All the female children will be carrier
(3) One son & one daughter (2) A male child has 50% chances of active disease
(4) Both sons & both daughters
(3) Female child has probability of 50% to active
71. Hypertrichosis is :-
disease
(1) Holandric character (2) X-Linked character
(3) Diagenic character (4) Sex-influened character (4) All the female children will be colourblind
72. Which of the following is not a sex linked characters
80. Which of the following show linkage group in
(1) Haemophilia (2) Colour blindness
coupling phase :-
(3) Hypertrichosis (4) Baldness
73. The condition in which only one allele of a pair is
present in a diploid organism is known as :- (1) (2)
(1) Homozygous
(2) Heterozygous
(3) Hemizygous (3) (4)
(4) Incomplete dominance
74. Baldness in man is a :- 81. Haemophilia is more commonly seen in human
(1) Autosomal character males than in human females because –
(2) Sex linked character (1) This disease is due to a Y–linked recessive
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84. A diseased man marries a normal woman. They 94. In which of the following sex is determined by female
get three daughters and five sons. All the daughters individual –
were diseased and sons were normal. The gene
(1) Human
of this disease is :–
(2) Drosophila
(1) Sex linked dominant
(2) Sex linked recessive (3) Birds
(3) Sex limited character (4) Grasshopper
(4) Autosomal dominant 95. Male heterogamy found in case of
85. Who postulated the 'Chromosome Theory of
(1) XO type male in Grasshopper
Inheritance' :-
(2) XY type male in human
(1) De Vries (2) Mendel
(3) Sutton and Boveri (4) Morgan (3) ZW male in birds
86. Experimental verification of the chromosomal (4) 1 and 2 both
theory of inheritance done by Thomas Hunt Morgan 96. There are two alleles (A1 & A2) out of which one
and his colleagues they worked with – (A1) has nil abundance in a population then the
(1) Pea plant (2) Sweet pea plant
abundance of second allele (A2) is :-
(3) Snapdragon (4) Drosophila
(1) 0.25 (2) 1.00
87. Which is incorrect for Drosophila melanogaster
(1) They could be grown on simple synthetic medium (3) 0.40 (4) 0.50
(2) Single mating could produce a large number of 97. Probability of four son to a couple is :–
progeny 1 1 1 1
(3) They complete their life cycle in about 7 weeks (1) (2) (3) (4)
4 8 16 32
(4) There was a clear differentiation of the sexes.
98. In a random mating population of 28,800
88. The experimental verification of the chromosomal
individuals percentage of dominant homozygous
theory of inheritance by–
individuals is 49% find out the percentage of
(1) Boveri (2) Sutton
heterozygous individual –
(3) T.H. Morgan (4) Bateson
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Normal female
Affected female
(1) AA, aa (2) Aa, Aa
(3) Aa, aa (4) aa, aa
(1) X-linked recessive
101. In a random mating population frequency of disease
(2) Y-linked
causing recessive allele is 80%. What would be the
(3) autosomal recessive
frequency of carrier individual in population :-
(4) autosomal dominant
(1) 64% (2) 32% (3) 16% (4) 100%
105. Which of the following symbol is used for mating
102. In a random mating population frequency of
between relatives (Consangeineous mating)
dominant allele is 0.7. What will be the frequency
of recessive phenotype :- (1) 5 (2)
(1) 0.49 (2) 0.09 (3) 0.3 (4) 0.21
103. At a particular locus, frequency of 'A' allele is 0·6
(3) (4)
and that of 'a' is 0·4. What would be the frequency
of heterozygotes in a random mating population at
equilibrium –
(1) 0·24 (2) 0·16 (3) 0·48 (4) 0·36