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’
plant varieties, as pair’s which were similar
except for one character with contrasting
traits.
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 phenotype.
 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
of gametes each having one allele with
equal proportion.
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.
⚫ Genotypic ratio of F2 generation is 1:2:1.
 Co – dominance:
⚫ F1 resembled 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 alleles.
⚫ I A and I B are completely dominant over i.
⚫ When I A, and I B present together they both express their
own types of sugar; this because of co-dominance. Hence
red blood cells have both A and B type sugars.
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
show incomplete dominance.
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 time.
⚫ Finally he could not provide any physical
proof for the existence of factors.
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)
⚫ Fertilization restores the chromosome number
to diploid condition.
⚫ The chromosomal theory of inheritance claims
that, it is the chromosomes that segregate and
assort independently.
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
⚫ Have many types of hereditary variations that
can be seen with low power microscopes.
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.
⚫ Morgan attributed this due to the physical
association or linkage of the two genes and
coined the termlinkage.
⚫ 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.
⚫ 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.
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.
⚫ Genotype with recessive alleles (aabbcc) will have
lightest skin colour.
⚫ Other combinations always with intermediate colour.
PLEIOTROPY:

⚫ 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
⚫ Reduction in hairs.
⚫ Reduction in skin pigmentation.
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 determination
system.
⚫ Male produce sperms by mitosis, they don not
have father and thus cannot have sons, but
have grandsons.
MUTATION:

⚫ 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.
⚫ Deletion and insertions of base pairs of DNA
causes frame shift mutations.
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 rolling
ability etc
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
children from normal
parents (heterozygous)
⚫ All children of affected
parents are also affected.
⚫ e.g.- Albinism, sickle cell
anaemia etc.
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, Cystic
fibrosis, Sickle cell anemia,
Phenylketonuria, Thalasemia etc.
Hemophilia:

⚫ 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.
⚫ Daughter can receive the disease from both
mother and father.
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
progeny.
Phenylketonuria:

⚫ 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.
⚫ These derivatives excreted through kidney.
 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 chromosomes (2n-1)
 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 crease.
⚫ Physical, psychomotor and
mental development is
retarded.
⚫ 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 rudimentary.
⚫ Lack of other secondary sexual
characters.
Thanking you