3.

PRINCIPLES OF INHERITANCE AND VARIATION

by: MA

IMPORTANT TERMS
Genetics: Study of inheritance, heredity and variation of

characters or Study of genes and chromosomes.

Inheritance: Transmission of characters from parents to

progeny.
Heredity: Resemblance b/w offspring and their parents.
Variation: Difference between parents and offspring.
Clone: The group of organisms produced by asexual

reproduction. (The individual of a clone is called rametes).

Offspring: The organism derived by sexual reproduction.
Alleles (Allelomorphs): The alternative forms of a gene.

E.g. T (tall) and t (dwarf) are two alleles of a gene

responsible for the character height.
Homozygous: The condition in which chromosome
carries similar alleles for a character. Also known as pure
line (True breeding). E.g. TT, tt, YY, yy etc.
Heterozygous: The condition in which chromosome
carries dissimilar alleles for a character. E.g. Tt, Yy etc.
Dominant character: The character which is expressed
in heterozygous condition. It indicates with capital letter.
Recessive character: The character which is suppressed
in heterozygous condition. It indicates with small letter.
Phenotype: Physical (Visible) expression of an individual.
Genotype: Genetic constitution of an individual.
Hybrid: An individual produced by the mating of
genetically unlike parents.
Haploid (Monoploid): An individual or cell containing a
single complete set of chromosomes.
Diploid: An individual or cell containing two complete
haploid set of chromosomes.
Punnett square (Checker board): A grid that enables to
calculate the results of simple genetic crosses.
Cross: Deliberate mating of 2 parental types of organism.
Reciprocal cross: Two way cross of the same genotype
in which the sexes of both parents are reversed.
Trait: A phenotypic characteristic of an inherited character.
Wild type: The species variety showing normal phenotype.
Father of genetics: Gregor Mendel
MENDELS LAWS OF INHERITANCE
Hybridization experiments on garden peas (Pisum sativum)
Mendel selected 7 pairs of true breeding pea varieties
Characters
Dominant
Recessive
1. Stem height
Tall
Dwarf
2. Flower colour
Violet
White
3. Flower position
Axial
Terminal
4. Pod shape
Inflated
Constricted
5. Pod colour
Green
Yellow
6. Seed shape
Round
Wrinkled
7. Seed colour
Yellow
Green
INHERITANCE OF ONE GENE
Monohybrid cross: A cross involving 2 plants differing in
one character pair. E.g. Mendel crossed tall and dwarf pea
plants to study the inheritance of one gene.
Steps in making a cross in pea:
Selection of 2 pea plants with contrasting characters.
Removal of anthers (emasculation) of one plant to avoid
self pollination. This is female parent.
Collection of pollen grains from the other plant (male
parent) and transferred to female parent (pollination).
Collection of seeds and production of offspring.

Monohybrid phenotypic ratio: Tall: 3 Dwarf: 1= 3:1

Monohybrid genotypic ratio:
Homozygous tall (TT): 1 Heterozygous tall (Tt): 2 &
Homozygous dwarf (tt): 1= 1:2:1
Mendel made similar observations for other pairs of traits
and proposed that some factors were inherited from parent
to offspring. Now it is called as genes.
Do not use T for tall and d for dwarf because
it is difficult to remember whether T & d are

The F1 (Tt) when self pollinated, produces gametes T and t

in equal proportion. During fertilization, pollen grains of T
have 50% chance to pollinate eggs of T & t. Also, pollen
grains of t have 50% chance to pollinate eggs of T and t.
1/4th of the random fertilization leads to TT ( TT).
1/2 (2/4) of the random fertilization leads to Tt ( Tt).
1/4th of the random fertilization leads to tt ( tt).
Tt x Tt
Binomial expression = (ax + by) 2
Hence ( T + t) 2
= ( T + t) ( T + t)
= TT + Tt + Tt + tt
= TT + Tt + tt
Mendel self-pollinated the F2 plants. He found that dwarf F2
plants continued to generate dwarf plants in F3 & F4. He
concluded that genotype of the dwarfs was homozygous- tt.
Backcross and Testcross
Backcross: Crossing of F1 hybrid with its any of parent.
Testcross: Crossing of an F1 hybrid with its recessive
parent (Test cross ratio=1:1). It is used to find out the
unknown genotype. (See figure in T.B. Page: 75)
Mendel conducted test cross to determine the F2 genotype.
Mendels Principles or Laws of Inheritance
1. First Law (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).
2. Second Law (Law of Segregation)
During gamete formation, the factors (alleles) of a
character pair present in parents segregate from each other
such that a gamete receives only one of the 2 factors.
Homozygous parent produces similar gametes.
Heterozygous parent produces two kinds of gametes each
having one allele with equal proportion.

The concept of dominance

In heterozygotes, there are dominant and recessive alleles.
The normal (unmodified or functioning) allele of a gene
produces a normal enzyme that is needed for the
transformation of a substrate. The modified allele is
responsible for production of
(i) The normal/less efficient enzyme or
(ii) A non-functional enzyme or
(iii) No enzyme at all
In the first case: The modified allele will produce the same
phenotype like unmodified allele. It becomes dominant.
In 2nd and 3rd cases: The phenotype will dependent only on
the functioning of the unmodified allele. Here, the modified
allele becomes recessive.
NON-MENDELIAN INHERITANCE
1. Incomplete Dominance
- It is an inheritance in which heterozygous offspring shows
intermediate character b/w two parental characteristics.
- E.g. Flower colour in snapdragon (dog flower or
Antirrhinum sp.) and Mirabilis jalapa (4O clock plant).

4. Pleiotropy
Here, a single gene produces more than one effect. E.g.
starch synthesis in pea seeds, sickle cell anaemia etc.
Starch synthesis in pea plant:
Effective starch synthesis Lesser starch synthesis
BB
x
bb
Large sized seeds
Small sized seeds
Gametes:
B
b
Bb (intermediate sized seeds)
Starch is synthesized effectively by BB and therefore, large
starch grains are produced. bb have lesser efficiency in
starch synthesis and produce smaller starch grains.
If starch grain size is considered as phenotype, the alleles
show incomplete dominance.
INHERITANCE OF TWO GENES (Dihybrid cross)
Dihybrid cross: A cross between two parents differing in 2
pairs of contrasting characters.
Mendel made some dihybrid crosses. E.g. Cross b/w pea
plant with round shaped & yellow coloured seeds (RRYY)
and wrinkled shaped & green coloured seeds (rryy).
On observing the F2, Mendel found that the yellow and
green colour segregated in a 3:1 ratio. Round and wrinkled
seed shape also segregated in a 3:1 ratio.
Parents:
RRYY
X
rryy

F1:

RrYy (Round yellow)

Selfing:
Here, phenotypic and genotypic ratios are same.
Phenotypic ratio= 1 Red: 2 Pink: 1 White
Genotypic ratio= 1 (RR):2 (Rr):1(rr)
- This means that R was not completely dominant over r.
- Pea plants also show incomplete dominance in other traits.
2. Co-dominance
It is the inheritance in which both alleles of a gene are
expressed in a hybrid. E.g. ABO blood grouping in human.
- ABO blood groups are controlled by the gene I. The
plasma membrane of the RBC has sugar polymers that
protrude from its surface and is controlled by the gene.
- The gene (I) has three alleles IA, IB and i. The alleles IA
and IB produce a slightly different form of the sugar while
allele i doesnt produce any sugar.
Alleles from Alleles from Genotype of Blood types
parent 1
parent 2
offspring
(phenotype)
IA
IA
IA IA
A
IA
IB
IA IB
AB
IA
i
IAi
A
B
A
A B
I
I
I I
AB
IB
IB
IB IB
B
B
I
i
IBi
B
i
i
ii
O
When IA and IB are present together they both express their
own types of sugars. This is due to co-dominance.
3. Multiple allelism
Here more than two alleles govern the same character. E.g.
ABO blood grouping (3 alleles: IA, IB & i).

Gametes:
F2:

ry

RY

Gametes:

RrYy
RY

Ry

rY

X
ry

RrYy
RY

Ry

rY

ry

Dihybrid Phenotypic ratio= Round yellow 9: Round green

3: Wrinkled yellow 3: Wrinkled green 1, i.e. 9:3:3:1
The ratio of 9:3:3:1 can be derived as a combination series
of 3 yellow: 1 green, with 3 round: 1 wrinkled.
i.e. (3: 1) (3: 1) = 9: 3: 3: 1
Dihybrid genotypic ratio: 1:2:1:2:4:2:1:2:1
RRYY =1
RRYy =2
RrYY =2
RrYy
=4
RRyy =1
Rryy
=2
rrYY
=1
rrYy
=2
rryy
=1
Third Law (Mendels Law of Independent Assortment):
It states that when more than one pair of characters are
involved in a cross, factor pairs independently segregate
from the other pair of characters.
CHROMOSOMAL THEORY OF INHERITANCE
Mendels work remained unrecognized till 1900 because,
1. Communication was not easy.

2. His mathematical approach was new and unacceptable.

3. The concept of genes (factors) as stable and discrete
units was not accepted. (Mendel could not explain the
continuous variation seen in nature).
4. Mendel could not provide any physical proof for the
existence of factors.
In 1900, de Vries, Correns & von Tschermak
independently rediscovered Mendels results.
Chromosomal Theory (1902):
Walter Sutton &
Theodore Boveri say that the pairing and separation of a
pair of chromosomes lead to segregation of a pair of factors
they carried. Sutton united chromosomal segregation with
Mendelian principles and called it the chromosomal theory
of inheritance. It states that,
Chromosomes are vehicles of heredity. They are
transmitted from parents to offspring, i.e. they are immortal.
Two identical chromosomes form a homologous pair.
They segregate at the time of gamete formation.
Independent pairs segregate independently of each other.
Chromosomes are mutable.
Genes are present on chromosomes. Hence they show
similar behaviours.
Thomas Hunt Morgan proved chromosomal theory of
inheritance using fruit flies (Drosophila melanogaster).
It is the suitable material because,
a. It breeds very quickly
b. Short generation time (life cycle: 12-14 days)
c. Breeding can be done throughout the year.
d. Hundreds of progenies per mating.
e. They can grow on simple synthetic medium.
f. Male and female flies are easily distinguishable.
g. It has many types of hereditary variations that can be
seen with low power microscopes.

Genetic maps are used as a starting point in the sequencing

of genomes as was done in Human Genome Project.
SEX DETERMINATION
Autosomes and Sex chromosomes (allosomes)
- Autosomes are chromosomes other than sex chromosomes.
Number of autosomes is same in males and females.
- Sex chromosomes (X & Y) are the chromosomes which
involve in sex determination.
- Henking (1891) studied spermatogenesis in some insects
and observed that 50 % of sperm received a nuclear
structure after spermatogenesis, whereas other 50 %
sperm did not receive it. Henking called this structure as
the X body (later it is called as X-chromosome).
Mechanism of sex determination
a. XX-XO mechanism: Here, male is heterogametic, i.e.
XO (Gametes with X and gametes without X) and
female is homogametic, i.e. XX (all gametes are with Xchromosomes). E.g. Many insects such as grasshopper.
b. XX-XY mechanism: Male is heterogametic (X & Y)
and female is homogametic (X only). E.g. Human &
Drosophila.
c. ZZ-ZW mechanism: Male is homogametic (ZZ) and
female is heterogametic (Z & W). E.g. Birds.
XX-XO & XX-XY mechanisms show male heterogamety.
ZZ-ZW mechanism shows female heterogamety.

Linkage and Recombination

Females produce only ovum with an X-chromosome.

There is an equal probability of fertilization of the ovum

Recombination: It is the generation of non-parental

gene combinations.
Linkage: Physical association of 2 or more genes on a
chromosome. They do not show independent assortment.
Morgan carried out several dihybrid crosses in Drosophila
to study sex-linked genes. E.g.
Cross 1:
Yellow-bodied, white-eyed females
X
Brown-bodied, red-eyed males (wild type)
Cross 2:
White-eyed, miniature winged
X
Red eyed, large winged (wild type)
(See figure in T.B. Page: 84)
Morgan intercrossed their F1 progeny. He found that
The two genes did not segregate independently of each
other and the F2 ratio deviated from the 9:3:3:1 ratio.
Genes were located on the X chromosome
When two genes were situated on the same chromosome,
the proportion of parental gene combinations was much
higher than the non-parental type. This is due linkage.
Genes white & yellow were very tightly linked and showed
only 1.3% recombination while white & miniature wing
showed 37.2% recombination (loosely linked).
Tightly linked genes show low recombination. Loosely
linked genes show high recombination.
Alfred Sturtevant used the recombination frequency
between gene pairs as a measure of the distance between
genes and mapped their position on the chromosome.

Sex Determination in Humans (XX-XY type)

Human has 23 pairs of chromosomes (22 pairs are

autosomes and 1 pair is sex chromosomes).

A pair of X-chromosomes (XX) is present in the female,

whereas X and Y chromosomes are present in male.

During spermatogenesis males produce 2 types of gametes.

50 % with X-chromosome and 50 % with Y-chromosome.

with the sperm carrying either X or Y chromosome.

The sperm determines whether the offspring male or female.

MUTATION
It is a sudden heritable change in DNA sequences resulting in
changes in the genotype and the phenotype of an organism.
Frame-shift mutation: Loss (deletions) or gain
(insertion/ duplication) of a DNA segment.
Point mutation: Mutation due to change in a single base
pair of DNA. E.g. sickle cell anemia.
Mutation results in Chromosomal abnormalities (aberrations).
Chromosomal aberrations are seen in cancer cells.
Mutagens (agents which induce mutation) include,
- Physical mutagens: UV radiation, , , rays, X-ray etc.
- Chemical mutagens: Mustard gas, phenol, formalin etc.
PEDIGREE ANALYSIS
In human, control crosses are not possible. So the study of
family history about inheritance is used. Such an analysis of
traits in several generations of a family is called pedigree
analysis. The representation or chart showing family history
is called family tree (pedigree).

Symbols used in pedigree analysis

Male:
Affected
individual:

Female:

Parents above &

children below:

Parents with
affected male
child:

Mating:

This is due to the single base substitution at the sixth

codon of the -globin gene from GAG to GUG.

Sex unspecified:
Mating b/w relatives
(consanguineous mating):
Five unaffected offspring:

In human genetics, pedigree study is utilized to trace the

inheritance of a specific trait, abnormality or disease.
GENETIC DISORDERS
2 types: Mendelian disorders and Chromosomal disorders.
1. Mendelian Disorders
Caused by alteration or mutation in the single gene.
The pattern of inheritance of Mendelian disorders can be
traced in a family by the pedigree analysis.
E.g. Haemophilia, Cystic fibrosis, Sickle-cell anaemia,
Colour blindness, Phenylketonuria, Thalesemia, etc.
Mendelian disorders may be dominant or recessive.
By pedigree analysis one can easily understand whether
the trait is dominant or recessive.

Pedigree analysis of (a) Autosomal dominant trait (E.g.

Myotonic dystrophy) (b) Autosomal recessive trait (E.g.
Sickle-cell anaemia).
Haemophilia (Royal disease):
Sex linked recessive disease.
In this, a protein involved in the blood clotting is affected.
A simple cut results in non-stop bleeding.
The heterozygous female (carrier) for haemophilia may
transmit the disease to sons.
The possibility of a female becoming a haemophilic is very
rare because mother has to be at least carrier and father
should be haemophilic (unviable in the later stage of life).
Queen Victoria was a carrier of the disease. So her family
pedigree shows a number of haemophilic descendents.
Sickle-cell anaemia:
This is an autosome linked recessive trait.
It can be transmitted from parents to the offspring when
both the partners are carrier for the gene (or heterozygous).
A
S
The disease is controlled by a pair of allele, Hb and Hb .
Homozygous dominant (HbAHbA): normal
Heterozygous (HbAHbS): carrier; sickle cell trait
Homozygous recessive (HbSHbS): affected
The defect is caused by the substitution of Glutamic acid
(Glu) by Valine (Val) at the sixth position of the globin chain of the haemoglobin (Hb).

The mutant Hb molecule undergoes polymerization under

low oxygen tension causing the change in shape of the

RBC from biconcave disc to elongated sickle like structure.
Phenylketonuria:
An inborn error of metabolism.
Autosomal recessive trait.
The affected individual lacks an enzyme (phenylalanine
hydroxylase) that converts the amino acid phenylalanine
into tyrosine. As a result, phenylalanine accumulates and
converts into phenyl pyruvic acid and other derivatives.
They accumulate in brain resulting in mental retardation.
These are also excreted through urine because of poor
absorption by kidney.

2. Chromosomal disorders
They are caused due to absence or excess or abnormal
arrangement of one or more chromosomes. 2 types:
a. Aneuploidy: The gain or loss of chromosomes due to
failure of segregation of chromatids during cell division.
It includes,
Nullysomy (2n-2): A chromosome pair is lost from diploid set.
Monosomy (2n-1): One chromosome is lost from diploid set.
Trisomy (2n+1): One chromosome is added to diploid set.
Tetrasomy (2n+2): 2 chromosomes are added to diploid set.
b. Polyploidy (Euploidy): It is an increase in a whole set of
chromosomes due to failure of cytokinesis after telophase
stage of cell division. This is often seen in plants.
Examples for chromosomal disorders
Downs syndrome (Mongolism): It is the presence of an
additional copy of chromosome number 21 (trisomy of 21).
- Genetic constitution: 45 A + XX or 45 A + XY (i.e.
47 chromosomes).
- Features:
o They are short statured with small round head.
o Broad flat face.
o Furrowed big tongue and partially open mouth.
o Many loops on finger tips.
o Palm is broad with characteristic palm crease.
o Retarded physical, psychomotor &mental development.
o Congenital heart disease.
Klinefelters Syndrome: It is the presence of an
additional copy of X-chromosome in male.
- Genetic constitution: 44 A + XXY (i.e. 47 chromosomes).
- Features:
o Overall masculine development, however, the
feminine development is also expressed. E.g.
Development of breast (Gynaecomastia).
o Sterile.
o Mentally retarded.
Turners syndrome: This is due to the absence of one of
the X chromosomes in female.
- Genetic constitution: 44 A + X0 (i.e. 45 chromosomes).
- Features:
o Sterile, Ovaries are rudimentary.
o Lack of other secondary sexual characters.
o Dwarf.
o Mentally retarded

Prepared by:
K.C. Muhammed ali K.C
[email protected], bankofbiology.blogspot.com