PRINCIPLES OF

INHERITANCE AND
VARIATIONS
MIND MAP

By: Dr. Anand Mani

inCounse
 INTRODUCTION

• Genetics deals with inheritance and variation of characters from

parents to offspring. 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.

• Humans knew that the causes of variation was hidden in sexual

reproduction.
 MENDEL’S LAWS OF INHERITANCE
• Gregor Mendel conducted hybridisation experiments on garden peas for
seven years (1856-1863) and proposed the laws of inheritance.
• Mendel selected 14 true breeding pea plant varieties as pairs, which were
similar except for one character with contrasting traits.
Contrasting traits studied by Mendel in Pea

S.No. Characters Contrasting Traits

1. Stem height Tall/Dwarf

2. Flower colour Violet/White

3 Flower position Axial/Terminal

4. Pod shape Inflated/Constructed

5. Pod colour Green/Yellow

6. Seed shape Round/Wrinkled

7. Seed colour Yellow/Green

 INHERITANCE OF ONE GENE
• Mendel found that F1 always resemble either of the parents, but F2 (produced by
selfing F1) both traits appeared; 3/4th showed the dominant trait and 1/4th the
recessive.
• Both traits were identical to their parental type and did not show any blending, i.e.
none were of INTERMEDIATE type.

• Mendel got similar results for all traits.

• To determine the genotype of dominant trait at F2, Mendel performed test cross.

3-A. BASED ON MONOHYBRID CROSS,

MENDEL PROPOSED TWO GENERAL RULES

• LAW OF DOMINANCE: Explains the expression of only one parental character in

F1 of monohybrid cross and both in F2. It also explains the proportion of 3:1
obtained at the F2.

• LAW OF SEGREGATION: The factors or alleles of a pair segregate from each

other such that gametes receive only one of the two factors.
 INCOMPLETE DOMINANCE

• F1 did not resemble either of the parents and was in between

the two. Seen in Dog flower (Snapdragon or Antirrhinum sp.)
In this case:
RR = has red flowers, rr = has
white flowers.
But Rr has pink flowers.
• Here Genotypic ratio at F2 is like Mendelian monohybrid cross 1
: 2 : 1 but phenotypic ratio changed from 3 : 1 (to 1 : 2 : 1).
EXPLANATION OF CONCEPT OF DOMINANCE
In diploid organisms, there are two copies of each gene, i.e., a pair of alleles.
One of them may be different, i.e., modified.
i. The normal allele produces normal enzyme needed for transformation of
substrate.
ii. If, the modified allele produced normal/less efficient enzyme, which
produce same phenotype/trait, it is dominant, but if it produce non-
functional or no enzyme, the phenotype will be affected and recessive
traits is seen.

Ø ‘Factors’ or genes are the units of inheritance. They contain information

required to express a particular trait in an organism.
Ø British geneticist R, C Punnett developed a graphical representation call
Punnett square to calculate possibility of all possible genotype of offspring
in a genetic cross.
 CO-DOMINANCE
• F1 resembles both parents.
• ABO blood group in human being is controlled by Gene I, having three
alleles IA, IB and i. IA and IB produce slightly different form of sugar, while i
does not produce any sugar.
• IA and IB are completely dominant over i, but when IA and IB are present
together, they express their own sugars, because of Co-Dominance hence
RBC have A and B types of sugars.
• There are six genotypes and four phenotypes in human ABO blood
types.
 PLEIOTROPY
A single gene can exhibit multiple phenotypic expression. It is the effect of a
gene on metabolic pathways which contribute towards different phenotypes.

Example:
1. Mental retardation
(a) Phenylketonuria
(Single gene)
2. Reduction in hair & skin
pigmentation

(b) Starch Synthesis 1. Seed Shape

gene in pea-(B) (Dominance)

2. Size of starch grain

(Incomplete dominance)
PLEIOTROPY

Size Shape

BB = Large grains

Round

Bb = Intermediate sized grains

Bb = Small grains Wrinkled

 MULTIPLE ALLELES
• More than two alleles governing the same character.
• ABO blood grouping is a very good example of multiple
alleles. Since in an individual only two alleles are present,
multiple alleles can be found only in population studies.
 INHERITANCE OF TWO GENES
• Mendel also worked and crossed pea plants that differed into two
characters and got a phenotypic ratio of 9 : 3 : 3 : 1 and genotype
ratio of 1 : 2 : 2 : 4 : 1 : 2 : 1 : 2 : 1.
• Based on these DIHYBRID CROSSES Mendel proposed the:

LAW OF INDEPENDENT ASSORTMENT

The law states that when two pairs of traits are combined in a hybrid,
segregation of one pair of characters is independent of the other pair of
characters.
CHROMOSOMAL THEORY OF INHERITANCE

• Walter Sutton & Theodore Boveri noted that the behaviour of

chromosomes was parallel to behaviour of genes and they used
chromosome movement to explain Mendel’s Laws.
• Sutton united the knowledge of chromosomal segregation with
Mendelian principles and called it chromosomal theory of
inheritance.
• Experimental verification was done by T.H. Morgan, who worked
with fruit flies Drosophila melanogaster.
DROSOPHILA MELANOGASTER WERE SUITABLE
FOR GENETIC STUDIES
• They could be grown on simple synthetic medium in
laboratory.
• They complete their life cycle in about two weeks.
• A single mating could produce a large number of progeny
flies.
• There is a clear differentiation of sexes.
• Also, it has many types of hereditary variations that can be
seen with low power microscopes.
 LINKAGE AND RECOMBINATION
• Morgan carried out several dihybrid crosses in Drosophila to study
genes that were sex-linked, similar to the dihybrid crosses of Mendel
in peas.

• But the F2 ratio deviated significantly from 9 : 3 : 3 : 1 (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 were
much higher than non-parental type. Morgan attributes it to
physical association or linkage of two genes and used term
recombination to describe non-parental gene combinations.
• Some genes were very-tightly linked (Showed very
low recombination), while others were loosely
linked (Showed higher recombination).

• Morgan’s student Alfred Sturtevant used frequency

of recombination between genes on same
chromosome as a measure of distance between
genes and mapped their position on chromosomes.

Today GENETIC MAPS are extensively used as a

starting point in sequencing whole genomes as done in
case of Human Genome Project.
 POLYGENIC INHERITANCE
• Traits controlled by three or more genes are polygenic traits. It
also takes into account influence of environment.
• The phenotype reflects the contribution of each allele, i.e., the effect
of each allele is ADDITIVE

E.g., Human Skin Colour

• AABBCC (dominant alleles) has darkest skin colour, aabbcc
(recessive alleles) has lightest and AaBbCc intermediate colour.
Other examples is height in Humans.
SEX-DETERMINATION
GENETIC/CHROMOSOMAL BASIS
• Initial clue came from insect. The X-body of Henking was in fact X-
chromosome.

TYPES

(a) XO-Type = Male heterogamety

e.g., = Grasshopper

(a) XY-Type = Male heterogamety

e.g., = Insects, Man

(a) ZW-Type = Female heterogamety

e.g., = Birds
SEX-DETERMINATION IN HUMANS
• Genetic make-up of SPERM determines sex of the child and in each
pregnancy there is always 50% probability of a male or female child.
• It is unfortunate that in our society females are blamed for giving
birth to female children.

SEX-DETERMINATION IN HONEY BEE

• Haplo-diploid sex- determination
• Unfertilised egg develops as male (drone) i.e., haploid, queen
and worker bees (female) are diploid.
MUTATION
• Results in alteration of DNA sequences and consequently results in
changes in the genotype and the phenotype of an organism.

• Loss (deletions) or gain (insertion/duplication) of a segment of DNA

results in chromosomes alteration.

• Alteration in chromosomes result in abnormalities or aberrations.

Chromosomal aberrations are commonly observed in cancer cells.

• Mutations also arise due to change in a single base pair of DNA, known
as point mutation; e.g.: Sickle-cell anaemia.

• Deletion and insertion of base pair of DNA cause frame-shift mutations.

• Chemical and physical factors that induce mutations are called

mutagens.
E.g. UV radiations can cause mutations in organisms.
GENETIC DISORDERS
PEDIGREE ANALYSIS

• Controlled crosses are not possible in case of human beings.

Study of family history about inheritance of a particular trait

provides an alternative. Such analysis of traits in several

generations of a family is called pedigree-analysis.

SYMBOLS USED IN THE HUMAN MENDELIAN CHROMOSOMAL DISORDERS
PEDIGREE ANALYSIS DISORDERS
Male • Mainly determined by • Caused due to absence or
alteration or mutation excess or abnormal
in a single gene arrangement of one or more
Female • It may be dominate or chromosomes.
recessive. Autosomal • Failure of segregation of
or Sex-linked. chromatids during cell-division
Example: cycle resulting in gain or loss of
Sex unspecified i. Colour-blindness a chromosome(s), is called
• Sex-linked recessive. ANEUPLOIDY.
• Due to defect in • Failure of Cytokinesis after
Affected either red or green telophase stage of cell division
individuals cone of eye due to results in an increase in a
mutation in certain whole set of chromosomes in
genes present on X- an organism, this is called
Mating Chromosomes. POLYPLOIDY, often seen in
• 8% of males & only plants.
about 0.4% of • TRISOMY or MONOSOMY
females affected. leads to very serious
consequences in the individual.
SYMBOLS USED IN THE HUMAN MENDELIAN CHROMOSOMAL DISORDERS
PEDIGREE ANALYSIS DISORDERS
Mating between (2) Haemophilia Common examples of
relatives • X-linked recessive chromosomal disorders.
(consanguineous • A single protein that is (i) Down’s Syndrome: Trisomy
mating) part of cascade of of 21 was first described by
proteins involved in Langdon Down (1866).
blood clotting is Symptoms:
affected. i. Short Statured.
(3) Sickle-Cell anaemia ii. Small round head.
Parents above • Autosome linked iii. Furrowed tongue.
and children recessive iv. Partially open mouth.
below • Controlled by single v. Palm broad with palm
pair of allele HbA and crease.
HbS. vi. Physical, psychomotor &
(4) Phenylketonuria mental development is
• Inborn error of retarded.
Parents with metabolism. (ii) Klinefelter’s Syndrome:
male child Autosomal recessive. Karyotype = 47 XXY, overall
affected with Affected individual masculine development, however
diseases lack enzyme which GYNECOMASTIA is also
converts expressed. Such individuals are
phenylalanine to sterile.
tyrosine. Results in
mental retardation.
SYMBOLS USED IN THE HUMAN MENDELIAN DISORDERS CHROMOSOMAL DISORDERS
PEDIGREE ANALYSIS
five unaffected (5) Thalassemia (iii) Turner’s Syndrome: Due to
5 offspring • Autosomal recessive, absence of one of the X-
could be due to chromosomes, i.e., 45 with XO.
mutation or deletion. Such females are sterile as ovaries
• a-thalassemia: are rudimentary besides lack of
Controlled by two other secondary sexual characters.
closely linked genes
HBA1 and HBA2 on
Chromosome-16.
• b-Thalassemia:
controlled by single
gene HBB on
Chromosome-11.
Pedigree analysis of
a. Autosomal dominant trait (e.g., Myotonic dystrophy)
b. Autosomal recessive trait (e.g., sickle-cell anaemia)

(a)

(b)
• T.H. Morgan found that in Drosophila the genes for yellow body and white aye
were very tightly linked and showed only 1.3% recombination, while white eye
and miniature wing showed 37.2% recombination.

• In Honeybee, males produce sperms by mitosis, they do not have father and
thus cannot have sons, but have grand-fathers and can have grandsons.

• Cystic fibrosis is autosomal recessive disorder.

• Chromosomal disorder can be easily studied by the analysis of

KARYOTYPES.

• Inheritable mutations can be studied by generating a pedigree of a family.

• The family pedigree of Queen Victoria shows a number of haemophilic

descendants as she was a carrier of the disease.

• Thalassemia differs from sickle-cell anaemia in that the former is a quantitative

problem of synthesising too few globin molecules while the latter is a
qualitative problem of synthesising an incorrectly functioning globin.
 Mendel’s Laws of
1 Inheritance
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2 Inheritance of One Gene
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3 Inheritance of Two Genes
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4 Polygenic Inheritance
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5 Pleiotropy
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6 Sex Determination
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7 Genetic Disorders
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THANK YOU

inCounse