PRINCIPLES OF INHERITANCE

AND
VARIATION
PRINCIPLES OF
INHERITANCE AND
VARIATION
Genetics: deals with the inheritance, as
well as the variation of characters from
parents to offsprings.
Inheritance: is the process by which
characters are passed on from parent to
progeny.
Variation: is the degree by which progeny
differ from their
parents.
MENDEL’S LAWS OF
INHERITANCE:
Gregor Mendel. Conducted hybridization
experiments on garden peas for seven
years (1856 – 1863) and proposed laws of
inheritance.
Mendel conducted artificial
pollination/cross pollination
experiments using several true-breeding
pea lines.
A true breeding line is one that, having
undergone
continuous self-pollination for several
generations.
Mendel selected 14 true-breeding peas’
INHERITANCE OF ONE
GENE:
Mendel’s
proposition:

Mendel proposed that something was
being stably passed down, unchanged,
from parent to offspring through the
gametes, over successive generations. He
called these things as ‘factors’.
Now a day we call them as genes.
Gene is therefore are the units of
inheritance.
Genes which codes of a pair of
contrasting traits are known as alleles,
i.e. they are slightly different forms of the
same gene.
Alphabets
used:
 Capital letters used for the trait expressed at
the F1 stage.
 Small alphabet for the other trait.
 ‘T’ is used for Tall and‘t’ is used for dwarf.
 ‘T’ and‘t’ are alleles of each other.
 Hence in plants the pair of alleles for
height would be TT. Tt. or tt.
 In a true breeding tall or dwarf pea
variety the allelic pair of genes
for height are identical or
homozygous,TT and tt respectively.
 TT and tt are called the genotype.
 Tt plant is heterozygous for genes
controlling one character (height).
 Descriptive terms tall and dwarf are the
 Test
cross:
When F1 hybrid is crossed back with the
recessive parent, it is known as test cross.
It is used to know the genotype of the given
plant/animal.
Law of
Dominance:
Characters are controlled by discrete
units called factors.
Factors occur in pairs.
In a dissimilar pair of factors one
member of the pair dominates
(dominant) the other (recessive).
Law of
Segregation:
The alleles do not show any blending and
that both the characters are recovered as
such in the F2 generation though one of
these is not seen at the F1 stage.
The parents contain two alleles during
gamete formation; the factors or alleles of
a pair segregate or separate from each
other such that a gamete receives only one
of the two factors.
Homozygous parent produces all gametes
that are similar i.e contain same type of
allele.
Heterozygous parents’ produces two kinds
Incomplete
dominance:
When a cross between two pure breed is
done for one contrasting character, the
F1 hybrid phenotype dose not resemble
either of the two parents and was in
between the two, called incomplete
dominance.
Inheritance of flower color in the dog
flower (snapdragon orAntirrhinum
sp.) is a good
example of incomplete dominance.
F2 generation phenotypic ratio is 1:2:1
in stead of 3:1 as Mendelian
monohybrid cross.
 Co –
 F dominance:
1resembled either of the two parents (complete
dominance).
 F1 offspring was in-between of two parents (incomplete
dominance).
 F1 generation resembles both parents side by side is
called (co-dominance).
 Best example of co-dominance is the ABO blood
grouping in human.
 ABO blood group is controlled by the gene I.
 The plasma membrane of the RBC has sugar polymers
(antigen) that protrude from its surface and the kind of
sugar is controlled by the gene-I.
 The gene I has three alleles I A,I B and i.
 The alleles I A and I B produce a slightly different form
of sugar while allele i doesn’t produce any sugar.
 Each person possesses any two of the three I gene
Multiple
Alleles:
Example of ABO blood grouping produces a
good example of multiple alleles.
There are more than two i.e. three allele,
governing the same character.
A single gene product may produce
more than one
effect:
 Starch synthesis in pea seeds is controlled by
one gene.
 It has two alleles B and b.
 Starch is synthesized effectively by BB
homozygote and therefore,
large starch grains are produced.
 The ‘bb’ homozygous has less efficiency
hence produce smaller grains.
 After maturation of the seeds, BB seeds are
round and the bb seeds are wrinkle.
 Heterozygous (Bb) produce round seed and
so B seems to be dominant allele, but the
starch grains produced are of intermediate
size.
 If starch grain size is considered as the
phenotype, then from this angle the alleles
INHERITANCE OF TWO
GENES:
Law of independent Assortment:
When two characters (dihybrid) are
combined in a hybrid, segregation of one
pair of traits is independent of the other
pair of traits.
CHROMOSOMAL THEORY OF
INHERITANCE:
 Why Mendel’s theory was remained
unrecognized?
 Firstly communication was not easy in those
days and his work
could not be widely publicized.
 Secondly his concept of genes (or factors, in
Mendel’s word) as stable and discrete units
that controlled the expression of traits and of
the pair of alleles which did not’ blend’ with
each other, was not accepted by his
contemporaries as an explanation for the
apparently continuous variation seen in
nature.
 Thirdly Mendel’s approach of using
mathematics to explain biological
phenomena was totally new and
unacceptable to many of the biologists of his
Rediscovery of
Mendel’s result:
1990 three scientists (deVries, Correns
and von Tschermak) independently
rediscovered Mendel’s result on the
inheritance of character
Chromosomal theory of
inheritance:
 Proposed by Walter Sutton and Theodore
Bovery in 1902.
 They work out the chromosome movement
during meiosis.
 The behavior of chromosomes was parallel to
the behavior of
genes and used chromosome movement to
explain Mendel’s laws.
 Sutton united the knowledge of chromosomal
segregation with Mendelian principles and
called it thechromosomal theory of
inheritance.
Chromosome and genes are present in pairs in
diploid cells.
Homologous chromosomes separate during
gamete formation (meiosis)

Experimental verification of
chromosomal theory:
 Experimental verification of chromosomal
theory of inheritance by Thomas Hunt
Morgan and his colleagues.
 Morgan worked with tiny fruit flies,
Drosophila melanogaster.
 Why Drosophila?
 Suitable for genetic studies.
 Grown on simple synthetic medium in the
laboratory.
 They complete their life cycle in about two
weeks.
 A single mating could produce a large
number of progeny flies.
 Clear differentiation of male and female flies
Linkage and
Recombination
 Morgan hybridized yellow bodied, white
eyed females
to brown-bodied, red eyed male and
intercrossed their F1
progeny.
 He observed that the two genes did not
segregate independently of each other and
the F2 ratio deviated very significantly from
9:3:3:1 ratio (expected when the two genes
are independent).
 When two genes in a dihybrid cross were
situated on the same chromosome, the
proportion of parental gene combinations was
much higher than the non-parental type.
 Linage: physical association of genes on a
chromosome.
 Recombination: the generation of non-
parental gene
combinations.
 Morgan found that even when genes were
grouped on the same chromosome, some
genes were very tightly linked (showed
very low recombination) while others were
loosely
linked (showed higher recombination).
 The genes white and yellow were very tightly
linked and showed
1.3 percent recombination.
 The genes white and miniature wing
showed 37.2 percent recombination,
hence loosely linked.
POLYGENIC
INHERITANCE:
 Human have no distinct tall or short instead a whole
range of possible heights.
 Such traits are generally controlled by three or
more genes and are thus called polygenic trait.
 Besides the involvement of multiple genes polygenic
inheritance also takes into account the influence of
environment.
 Human skin color is another classic example of
polygenic inheritance.
 In a polygenic trait the phenotype reflects the
contribution of each allele i.e. the effect of each allele is
additive.
 Assume that three genes A, B, C control the skin colour
in human.
 Dominant forms A, B; AND C responsible for dark skin
colour and the recessive forms a, b, c for light color of
the skin.
 Genotype with dominant alleles (AABBCC) will have
darkest skin color.
PLEIOTR
OPY:
 A single gene can exhibit multiple
phenotypic expression, such gene is called
pleiotropic gene.
 The mechanism of pleiotropy in most cases is
the effect of a gene on metabolic pathways
which contributes towards different
phenotypes.
 Phenylketonuria a disease in human
is an example of pleiotropy.
 This disease is caused due to
mutation in the gene that code for
the enzyme phenyl alanine
hydroxylase.
 Phenotypic expression
characterized by:-
Mental retardation

SEX
DETERMINATION
:Henking (1891) traced specific nuclear
structure during spermatogenesis of
some insects.
50 % of the sperm received these
specific structures, whereas 50%
sperm did not receive it.
Henking gave a name to this
structure as the X-body.
X-body of Henking was later on
named as X-chromosome.
Sex-determination of
grass hopper:
Sex-determination in grasshopper is XX-XO
type.
All egg bears one ‘X’ chromosome along
with autosomes.
Some sperms (50%) bear’s one ‘X’
chromosome and 50% do not.
Egg fertilized with sperm (with ‘X’
chromosome) became
female (22+XX).
Egg fertilized with sperm (without ‘X’
chromosome) became male (22 + X0)
Sex determination in insects
and mammals
(XX-XY type):
Bothe male and female has same number
of chromosomes.
Female have autosomes and a pair of X
chromosomes. (AA+ XX)
Male have autosomes and one large ‘X’
chromosome and one very small ‘Y-
chromosomes. (AA+XY)
This is called male heterogammety and
female
homogamety.
Sex determination
in birds:
Female birds have two different sex
chromosomes designated asZ and W.
Male birds have two similar sex
chromosomes and called ZZ.
Such type of sex determination is
called female heterogammety
and male homogamety.
Sex determination in
Honey bee:
 Sex determination in honey bee based on
the number of sets of chromosomes an
individual receives.
 An offspring formed from the fertilization of
a sperm and an egg
developed into either queen (female) or
worker (female).
 An unfertilized egg develops as a male
(drone), by means of parthenogenesis.
 The male have half the number of
chromosome than that of
female.
 The female are diploid having 32
chromosomes and males are haploid i.e.
having 16 numbers of chromosomes.
 This is called haplodiploid sex
MUTATI
ON:
 Mutation is a phenomenon which results in
alteration of DNA sequences and consequently
results in changes in the genotype and phenotype
of an organism.
 In addition to recombination, mutation is
another phenomenon that leads to variation in
DNA.
 Loss (deletion) or gain (insertion/duplication) of a
segment of DNA results in alteration in
chromosomes.
 Since genes are located on the chromosome,
alteration in chromosomes results in abnormalities
or aberration.
 Chromosomal aberrations are commonly observed
in cancerous cells.
 Mutations also arise due to change in a single
base pair of DNA.This is known as point mutation.
E.g. sickle cell anemia.
GENETIC
DISORDERS:
Pedigree Analysis:
Analysis of traits in several of generations
of a family is called the pedigree
analysis.
In the pedigree analysis the inheritance of
a particular trait is represented in the
family tree over generations.
 Autosomal
Dominant
 Affected individuals have at
least one affected parent
 The phenotype generally
appears every generation
 Two unaffected parents only
have unaffected
offspring
 Traits are controlled by
dominant genes
 Both males and females are
equally affected
 Traits do not skip
generations
 e.g. polydactyly, tongue
Autosomal
recessive:
 Unaffected parents can
have affected offspring
 Traits controlled by
recessive
genes and
 Appear only when
homozygous
 Both male and female
equally affected
 Traits may skip
generations
 3:1 ratio between normal
and affected.
 Appearance of affected
Mendelian
Disorder:
Genetic disorders grouped into two
categories –
Mendelian disorder
Chromosomal disorder
Mendelian disorders are mainly
determined by alteration or mutation in
the single gene.
Obey the principle of Mendelian
inheritance during
transmission from one generation to other.
Can be expressed in pedigree analysis.
E.g. Haemophilia, colorblindness,
Hemophi
lia:
 In this disease a single protein that is a part of
the cascade of proteins involved in the clotting
of blood is affected. Due to this in an affected
individual a simple cut will result in non-stop
bleeding.
 Sex linked recessive disease.
 The diseases transmitted from unaffected
carrier female to some of the male progeny.
 Female becoming hemophilic is extremely rare
because mother of such a female at least
carrier and the father should be hemophilic.
 Affected transmits the disease only to the son
not to the daughter.

Sickle cell
anaemia:
 The defect is caused due to substitution of Glutamic acid
(Glu) by Valine (Val) at the sixth position of the beta globin
chain of the haemoglobin molecule.
 Substitution of amino acid takes place due to the single
base substitution at the sixth
codon of the beta globin gene from GAG to GUG.
 The mutant haemoglobin molecule undergoes polymerization
under low oxygen tension causing the change in the shape of
the RBC from biconcave disc to elongated sickle like structure.
 This is an autosomes linked recessive trait.
 Transmitted from parents to the offspring when both the
parents are carrier for the gene
(heterozygous).
 This disease is controlled by single pair of allele, HbA, and HbS.
 There are three possible genotypes (HbA HbA, HbA HbS, and
HbSHbS.
 Only homozygous individuals for HbS (HbS HbS) show the
diseased phenotype.
 Heterozygous (HbA HbS) individuals appear apparently
unaffected but they are carrier of the disease as there is 50
percent probability of transmission of the mutant gene to the
Phenylketon
uria:
Autosomal recessive trait.
Inborn error of metabolism.
The affected individual lack one enzyme
called phenyl alanine hydroxylase that
converts the amino acid phenyl alanine to
tyrosine.
In the absence of the enzyme phenyl
alanine accumulated and
converted into phenylpyruvic acid and
other derivatives.
Accumulation of these results in mental
retardation.

 Chromosomal
disorders:
Caused due to absence or excess or
abnormal arrangement of one or more
chromosome.
Failure of segregation of chromatids during
cell division cycle results in the gain or loss
of chromosome(s),
called Aneuploidy.
Failure of cytokinesis after telophase stage of
cell division results in an increase in a whole
set of chromosome in an organism and this
phenomenon is called polyploidy.
Trisomy: additional copy of a chromosome
may be included in an individual (2n+1).
Monosomy: an individual may lack one of
any one pair of
 Down
syndrome:
 Caused due to presence
of an additional copy of
the chromosome
number 21 (trisomy of
21).
 This disorder was first
described by
Langdon Down
(1866).
Short stature with
small round head.
Furrowed tongue
Partially opened mouth
Palm is broad with
characteristic palm
 Klinefelter’s syndrome:
 Caused due to the presence of
an additional copy of X-
chromosome resulting into a
karyotype of 47, (44+XXY).
Overall masculine development.
Also develop feminine
character (development of
breast i.e. Gynaecomastia)
Individuals are sterile.
 Turner’s syndrome:
 Caused due to the absence of
one of the X- chromosomes
i.e. 45 (44 + X0).
Such females are sterile as
ovaries are
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