Principles of Inheritance

and Variation

DESIGNED

By

Edustudy point
Genetics: It is the branch of biology which deals with inheritance and variations of characters
from parents to offspring.

Inheritance: It is the process of passing characters from parent to progeny. It is the basis of
heredity.

Variations: It is the degree by which progeny differs from parents. Variations can be in terms
of physiology, morphology and behavioral characteristics of individual belonging to same species.

Mendel’s Law Of Inheritance: Mendel conducted hybridization experiments on garden

peas for seven years (1856-1863). On the basis of these experiments he proposed the laws of
inheritance.

• He selected the characters that has two opposing traits and concluded his hybridization
experiments on 14 true-breeding pea plant varieties.

Reasons for selecting garden pea plant:

• Easily available on large scale.

• There are many varieties with distinct characteristics.

• They are self-pollinated and can be cross-pollinated easily.

• They have a short life cycle.

Reason for success of Mendel:

• He studied one character at a time.

• He used available techniques to avoid cross pollination by undesirable pollen grains.

• He applied mathematics and statistics to analyze the results obtained from him.

• Mendel selected seven contrasting characters for the experiment.

Inheritance of one Gene (Monohybrid Cross):-
• Mendel crossed tall and dwarf pea plant and collected the
seeds from them. Seeds were used to generate plants of
first generation (F1 or Filial progeny).
• Mendel observed that all the first generation plants were
tall, none of them were dwarf. He concluded that
F1 generation resembled either one of the parents.

• He then self-pollinated the tall F1 plants and he observed

that some of them were dwarf.
• In F2 generation, both the traits were expressed in
proportion of 3:1. Dominant trait in F2 is about thrice of
the recessive from. F2 generation

• Based on these observations, he concluded that something

was being stably passed from one generation to the other.
He named it ‘factors’ which are now called as ‘genes’.

➢ Gene: It is the unit of inheritance. It contains information that is required to express a

particular trait in an organism. Genes which code for a pair of contrasting traits are known as
‘alleles’. They are slightly different for a same gene.

• For representing traits, capital letter is used for the

trait expressed at F1 generation and small letter is
used for the other one. For example: T for tall trait,
t for dwarf.

• T and t are alleles of each other. Pair of alleles for

height in the plants are TT, Tt and tt.

• TT and tt are homozygous called genotype of the

plant while the description terms tall and dwarf are
phenotype & It represents heterozygous.

• Test cross is the cross between an individual with

dominant trait and a recessive organism. It helps us
to understand whether the dominant trait is
homozygous or heterozygous.
• Punnett square is a graphical representation used to
calculate probability of all possible genotypes of
offspring in a genetic cross.

Punnett square
Law of Dominance: The dominant allele masks the effect of recessive allele. It explains the
expression of only one of the parental characters in a monohybrid cross in F1 and expression of
both in F2.

• Characters are controlled by discrete units called factors.

• Factors occur in pairs.

• In a dissimilar pair of factors one member of pair dominate the other.

For example: allele of tallness (T) is dominant over allele of dwarf (t).

Law of Segregation: It states that every individual possess two alleles of a gene and these
alleles segregate from each other during gamete formation (at the time of meiosis).

• Alleles do not blend and both the characters are recovered during gamete formation in
F2 generation.
• Homozygous individuals produce one type of gametes while heterozygous individuals
produce two types of gametes each having one allele with equal proportion.

1) Incomplete Dominance: When the experiments were repeated on other traits on other
plants, sometimes it was found that F1 progeny does not resemble either of the parent, it was
a mixture of two.
• Genotypic ratio was same as we would expect in Mendelian monohybrid cross but
phenotypic ratio is changed.

For example: Snapdragon or Antirrhinum sp. or dog flower – inheritance of flower color.

2) Co-Dominance: The two alleles are able to express themselves independently when present
together.
• IA, IB are dominant over i. If IA and I are present, only IA expresses. IA and IB are present
both of them express each other.

For example: ABO blood grouping in humans is controlled by gene I. It has three alleles IA,
IB and i.

ABO blood grouping is also a good example of multiple alleles.

Inheritance of two Gene: Mendel also worked with two characters on pea plant. He
choose color and shape of the seed to explain the inheritance of two genes.

Y – dominant yellow color

y – recessive green color

R – round shape of the seed

r – wrinkled shape of the seed

 Phenotypic Ratio- Round yellow : round green : wrinkled yello w : wrinkled green

9 : 3 : 3 : 1

Chromosomal Theory of Inheritance: According to this theory-

• Genes are located at specific locations on the chromosomes.

• Chromosomes as well as gene both occur in pairs.

• Homologous chromosomes separate during meiosis.

• Fertilization restores chromosome number to diploid condition.

• Chromosomes segregate as well as assort independently.

Meiosis and Germ cell formation in a cell with four chromosomes.

Linkage And Recombination: Morgan carried out several dihybrid crosses in Drosophila to
study genes that were sex-linked.

• Morgan hybridized yellow-bodied, white-eyed females to brown-bodied, red-eyed males

and intercrossed their F1 progeny.

• According to him, two genes did not segregate independent of each other and F2 ratio
deviated from 9:3:3:1. This concluded that genes are linked. This process is called linkage.

• Recombination is the rearrangement of genetic material. The generation of non-parental

gene combination during dihybrid cross is called recombination.

• When genes are located on same chromosome, they are tightly linked and show less
linkage. This is responsible for variation.

Sex Determination: Different organisms have different types of sex determination.

• In 1891, Henking observed specific nuclear structure is located on 50 per cent of sperms
only. The discovered X-body but was unable to explain its significance.

• In insects, XO type of sex determination is present. All the eggs have an additional X-
chromosome besides the autosomes. Some sperms bear X-chromosome where as some do
not.

• Eggs fertilized by sperm having having X-chromosome become females and those fertilized
by sperms that do not have an X-chromosome becomes males.

• For example: grasshopper (males have only one X-chromosome besides autosomes and
females have a pair of X-chromosomes)

Sex Determination In Humans: XY type of sex

determination seen in humans.

• Out of 23 pairs chromosomes present, 22

chromosomes are exactly same in both male and
female. These are autosomes.

• Males have (XY) and Females have (XX)

chromosomes.

• Drosophila also has XY type of sex determination.

Sex Determination In Birds: ZW type of sex determination is seen in birds.

• Females have ZW and males have ZZ chromosomes.

• In birds sex is determined by type of ovum.

• In birds, females are heterogametic.

Mutation: Mutation is any change in DNA sequence.

• It is a heritable change.

• Mutations can affect genotype as well as phenotype.

• It also leads to variations.

• Types of mutations:-

1) Point Mutations: Mutations that occur due to change in a single base pair of DNA is
called as point mutations. For example: sickle cell anemia

2) frame-shift mutations: When there is deletion or insertion of base pairs of DNA,

it causes frame-shift mutations.

• Mutagens are the chemical and physical factors that induce mutations. UV rays can also
cause mutations.

Genetic Disorders:-
Pedigree Analysis: Analysis of traits in several generations of family is called pedigree
analysis.

• Inheritance of a particular trait is represented in the family tree over generations.

• Symbols used in pedigree analysis

Mendelian Disorders: Most common and prevalent Mendelian disorders are Haemophilia, Cystic
fibrosis, Sickle-cell anaemia, Colour blindness, Phenylketonuria, Thalassemia, etc.

1) Haemophilia: sex-linked recessive disease.

• A single protein that is a part of the cascade of proteins involved in the clotting of blood
is affected.

• In affected individual, a simple cut will result in non-stop bleeding.

• Heterozygous female (carrier) can transmit the disease to son.

• Possibility of female becoming a haemophilic is extremely rare.

2) Sickle-Cell Anaemia: Autosome linked recessive trait.

• It can be transmitted from parents to the offspring when both the parents are carrier
for the gene.

• Disease is controlled by a single pair of allele, HbA and HbS.

• HbSHbS homozygous shows the diseased phenotype.

• Heterozygous individuals HbAHbS show normal phenotype but they are carrier of the
disease.

• 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. It results from single base
substitution from GAG to GUG at sixth codon of the beta globin.

• Due to this, mutant haemoglobin is formed. It undergoes polymerization under low oxygen
tension causing the change in the shape of the RBCs from biconcave to elongated sickle-
like structure.

3) Phenylketonuria: Inborn error of metabolism, autosomal recessive trait.

• Affected individual lacks an enzyme that converts the amino acid phenylalanine into
tyrosine.

• Due to which, phenylalanine gets accumulated and converted into phenylpyruvic acid and
other derivatives.

• This causes mental retardation.

Chromosomal Disorders: It is caused due to absence or excess or abnormal arrangement of
one or more chromosomes.

• Aneuploidy – failure of segregation of chromatids during cell division cycle results in the
gain or loss of chromosome.

• Polyploidy – Failure of cytokinesis after telophase stage of cell division results in an

increase in a whole set of chromosomes in an organism.

Down’s syndrome – gain of extra copy of chromosome 21 (trisomy 21)

• It was first described by Langdon Down (1866).

• Affected individual is short with small round head, furrowed tongue and partially open
mouth.

• Broad palm with characteristic palm crease.

• Physical, psychomotor and mental development is retarded.

Klinefelter’s syndrome – presence of an additional copy of X-chromosome resulting into

karyotype, 47, XXY.

• Sterile individuals are sterile.

Turner’s syndrome – loss of an X-chromosome in human females i.e. 45 with XO

• Such females are sterile as ovaries are rudimentary.

KHATAM