PRINCIPLES OF INHERITACE AND VARIATIONS

- The principles determine the characters in

humans and other organisms and cause for
variations
- Genetics – study of inheritance of characters
and variations
- Right from 8000-1000BC- basis of inheritance is in
sexual reproduction
- Been performing number of breeding
experiments – e.g. Sahiwal , indigenous cattle
breed in India
Mendel’s experiments: (1856-1863)

1. Application of mathematical logic and statistical

analysis for solving problems of Biology.
2. Large sampling size- gave credibility.
 3. Confirmation of inferences from experiments on
successive generations of test plants – proved
results of experiments pointed to general rules
of inheritance.

Reasons for choosing pea plants(Pisum sativum):

1. Small herb, of small life span
2. Mostly self pollinated
3. Pollination can be easily manipulated
4. Plant is with number of variations that are easily
observed on the plant.
- Choosed plants that exhibit contrasting variations
with respect to a character
Inferences:
- Characters are determined by factors(today called
as genes)
- Factors exist in the form of pairs
- Factors get transferred to next generation
through gametes
- Through gametes, from a pair of factors, only one
factor gets transferred to next generation.
- Through gametes, the factors from two parents
with contrasting traits, get transferred and come
together at the time of zygote formation
- In first filial generation(F1), out of two
characters(contrasting) only one character is
expressed
- Which ever the character that is expressed he
called it as Dominant character and other
character that did not express was called as
recessive character. – Law of Dominance
- Homozygous- pair of similar factors(TT, tt)
- Heterozygous – pair of dissimilar alleles or
factors(Tt)
- Allele – different forms of the same factor or
gene ( height character has two alleles – T and t)
- Phoenotype: external visible character
- Genotype : the allelic combination that is
responsible for a character/Phenotype.
- 2nd law of inheritance: The alleles responsible for
a character get segregated at the time of gamete
formation.

Punnette square: graphical representation of

phenotypes and genotypes that result after a
cross. – Reginald C Punnette
- For expression of dominant character allelic
combinations may be Homozygous(TT) or
Heterozygous(Tt) dominant allele
- But for expression of recessive character
necessarily the allelic combination must be
homozygous recessive(tt)
 Test cross

- Done to know about the genotype of a plant that

is expressing dominant phenotype
- Cross the plant that is expressing dominant
character with plant expressing recessive
character
- Homozygous dominant – progeny will be 100%
with dominant character
- Heterozygous dominant- progeny will be 50%
expressing dominant phenotype ,other 50%
expressing recessive phenotype.

Incomplete Dominance
- Plant snapdragon/ Antirrhinum majus
 What is dominance?
- Alleles are present diploid organism as pair
- In a pair one allele is unmodified, the other one is
modified e.g., Tt, Rr
- If Modified allele produces same kind of enzyme
for substrate to get converted into product, then
modified allele is equivalent to unmodified allele.
- If Modified allele produces nonfunctional enzyme,
then phenotype depends on expression of the
unmodified allele alone
- If Modified allele produces no enzyme, then
phenotype depends on expression of the
unmodified allele alone.

Co-dominance and Multiple Allelism

Starch grain size in pea seeds:
BB- large size , Round seeds
bb- smaller size, Wrinkled
Bb- in between , Round seeds
Starch grain size – incomplete dominance
Shape of the seeds – clear dominance

Monohybrid cross: crossing between two plants

considering a single trait.
Crossing a tall plant with a dwarf plant
considering single trait plant height.
 Dihybrid cross: crossing two plants that vary in
two traits

Law of independent assortment:

- Alleles for a trait segregate independent of the
alleles for any other trait at the time of gamete
formation.
- Segregated alleles come together independent of
each other at the time of gamete and zygote
formation.
- 1865 – Mendel published his findings
- But till 1900 his publications went unnoticed.
- Reasons:
- 1. Lack of communication facilities.
- 2.Factors or genes as discrete units are the ones
that are regulating the expression of trait and are
responsible for variations and do not blend, was not
accepted by his contemporaries
- 3. His mathematical approach for explaining
Biological concept was not accepted by his
contemporaries.
- 4. He could not provide evidence for the existence
of factors or genes
- 1900 – De Vries, correns, von Tcshermak –
reworked on Mendel’s publications and confirmed
mendel’s findings were True.
- 1902 – microscopic techniques were advanced
- Cell division was worked out
- Could witness the formation of chromosomes prior
to cell formation and could stain them observe their
behavior.(chromo – coloured, soma –bodies)
- Based on these observations Walter Sutton and
Theodore Boveri – chromosomal theory of
Inheritance - 1902
-
T. H. Morgan – Fruit flies(Drosophila melanogaster)

Reasons:
1. Small flies that can be easily cultured in artificial
medium.
2. No. of off springs per reproductive cycle is large.
3. Male and female- very easily distinguished from
each other.
4. Life cycle – two weeks
5. Easily identifiable variations are frequently seen.
 Linkage: physical location of different alleles for
different traits on the same chromosome
Linked genes- the genes located on the same
chromosome.
Closely linked – genes located very close to each
other on a chromosome.
- Percentage of Appearance of recombinants is less
Distantly linked – genes located on far from each
other on a chromosome
- Percentage of Appearance of recombinants is
 More
Mapping – locating genes on the chromosome based
on the percentage of recombinants- Albert
Sturtevant.
Polygenic inheritance – Expression of a character or
a trait is determined by multiple genes .
e.g., skin colour – three genes A, B, C(dominant
alleles) a,b,c (recessive alleles)
dark skin – AABBCC, very fair skin- aabbcc, in
between- AaBbCc
Pleiotropy – one gene regulating expression of
multiple phenotypes.
e.g., in Phenylketonuria – autosomal disorder- gene
responsible for synthesis of Phenylalanine
hydroxylase(converts Phenylalanine to tyrosine)
malfunctions :
1. no production of tyrosine
2. produces other acids like phenyl pyruvic acid
and other ketone bodies.
3. reduces pigmentation of skin and hair

SEX DETERMINATION:
- Henking (1891) – insect sex determination- 50%
of the sperms contained some dark coloured dot
 like structure, the other 50% of sperms did not
contain this.
- Unaware of the nature of dark dot like structure,
called as X body. later it was understood to be X
chromosome.
Sex determination in grass hopper:

Sex determination in Birds:

Sex determination in Honey bees:
-diploid(32) – female
-haploid(16) - male

Male heterogamety- male parent produces two

different kinds of male gametes. E.g., human males
produce 50% of sperm cells with Y chromosome and
other 50 % contain X chromosome.

Female heterogamety: Female parent produces two

different kinds of female gametes
e.g., in birds hen, she produces 50% egg cells with
Z , other 50% will be with W sex chromosome.

Mutations:
- Sudden inheritable changes in sequence of
nucleotides on the DNA
- Mutant
- Changes may take place even in the
chromosomes leading to loss of segment of the
chromosome or part of chromosome may get
added-chromosomal aberrations
- Mutagens- factors that introduce mutations in
DNA or in chromosome
- Physical – UV radiations, gamma radiations, x –
Rays
Biological factors – Viruses
Chemical – BHC, Carcinogenic chemicals in
 tobacco smoke
- Mutations may arise due to just loss or addition
or change of one nucleotide
e.g., AAATTTGGGCCC – NORMAL
AAATTCGGGCCC – POINT MUTATIONS
Pedigree analysis:
-pedigree represents graphically, the nature of
inheritance of a character in a family line from one
generation to the subsequent generations
- analysis of pedigree will give us information about
the pattern of inheritance of disorder or characters
Cross a:
- Character is dominant since it is seen in parent
and subsequent progeny as well.
- Character autosome linked since the inheritance
is from affected female parent to some of both
male and female progeny
Cross b
- Character is autosome linked, recessive as it is
seen in few both male and female progeny

Aneuploidy: when one or more chromosome/s

added or deleted
Monosomy – chromosome is deleted – (2n-1)
Trisomy – chromosome is added- (2n+1)
Polyploidy- addition or deletion of one or more
whole set of chromosomes
Haploidy(monoploidy) - one set of chromosomes(n)
Diploid- 2 sets of chromosomes(2n)
Triploid- 2n+n= 3n
Tetraploid- 3n + n=4n
Pentaploid( 2n+ n+n+n= 5n)
- Nondisjunction of chromosomes during anaphase
Mendelian or Genetic disorders:
Disorder occurs due to defect/error in one gene.
Haemophilia:
- Sex linked(linked with x chromosome), recessive
- Usually female parent acts as carrier of recessive
allele, unaffected by the disease

- No blood clotting during wounds- continuous

bleeding – bleeders disease- recessive allele-
clotting factors are not formed required in
cascade of reactions
- Usually males are affected, females unaffected-
they have two X chromosomes, even one x
 chromosome is with a dominant allele, recessive
allele does not express.
Sickle cell anemia:
- RBC are sickle shaped, clog narrow capillaries,
Clogs/blocks are cleared by phagocytic cells in the
blood- reduces the number of RBCs,- anemic
condition
- Autosome linked(11 th pair), recessive disorder

-
-

-
- Phenylketonuria:
- Autosome linked(12 pair), recessive
 - Homozygous recessive condition for defective
allele-no production of phenyl alanine
hydroxylase- no conversion of phenyl alanine to
tyrosine-instead phenyl alanine gets converted
into phenyl pyruvic acid and other derivatives- get
accumulated in brain
- Mental retardation
- Reduced skin and hair pigmentation
- Ketone bodies excreted through urine

Colour blindness:
- People are colour blind – fail to identify green and
red colours.
- Recessive allele lies on x chromosome(sex linked
and recessive disorder)
- Males are more affected than females
 Chromosomal disorders:
Down’s syndrome:
- Trisomy of 21st pair of chromosomes

- Mentally retarded
- Congenital heart diseases
- Partially opened mouth
- Protruding tongue, broad and wriknled
- Flat back of head
- Broad flat face
- Palms with characteristic creases
Klinefelter’s syndrome:
- One extra X chromosome (XXY)
- Externally male with some feminine characters
e.g., development of breasts(Gynacomastia)
- Tall statured but sterile, with underdeveloped
testis without sperm production
 -
Turners Syndrome:
- Presence of only one X chromosome(X0)
- Externally appears to be female
- Ovaries are regressed, no development of egg
cells- sterile
- Short statured

Thalassemia:
- HBA1 and HBA2 – two closely linked genes on 16th
chromosome – alpha chain of haemoglobin
- HBB1 – single gene on 11th chromosome- beta
chain of haemoglobin
- More the number of defective and recessive
allele- reduced production of appropriate chain of
haemoglobin – quantitative problem