3.

Inheritance and Variation

Chromosomes and Mechanism of inheritance.

• Heredity/Inheritance is the transmission of genetic information from
generation to generation.
• Gregor Mendel first explained the mechanism of inheritance by using the
technique of hybridization.
• He studied the inheritance of the following seven traits in garden pea
(Pisum sativum).
[Link] Character Contrasting traits
1. Stem height Tall / dwarf
2. Flower position Axial/terminal
3. Flower colour Purple/white
4. Pod shape Inflated/constricted
5. Pod colour Green/yellow
6. Seed colour Yellow/Green
7. Seed shape Round/wrinkled
• He coined term ‘factors’ that are responsible for expression of a particular
trait/ character.
• The Mendelian factors are now termed as ‘genes’.
Reasons for Mendel’s Success :
• Mendel planned his experiments carefully with large sample size.
• He carefully recorded all the results and analyzed the data statistically.
He selected Pisum sativum as his experimental plant, as it has several
contrasting characters.
• The factors responsible for these characters are located on separate
chromosomes.
Genetic Terminology:
Character : It is a specific feature of an organism e.g. height of stem.
Trait: An inherited character and its detectable variant e.g. Tall or dwarf.
Factor: It is a unit of heredity, which is responsible for the inheritance and
expression of a character.
Gene: It is a specific segment of DNA which is responsible for the inheritance
and expression of a character.
Alleles or Allelomorphs are two or more alternative forms of a given gene
(factor). They occupy identical loci (positions) on homologous chromosomes.
Dominant: It is an allele of a pair that masks the expression of other allele in
heterozygous condition.
Recessive: This allele is not expressed in the presence of an alternative allele
(in heterozygous condition
Phenotype: The external appearance of an individual for any trait is called
phenotype for that trait.
Genotype: Genetic constitution of an organism with respect to a particular trait.
Homozygous (pure): It is an individual with identical alleles for a particular
trait.
Heterozygous (hybrid): It is an individual possessing contrasting allele for a
particular trait.
Pure line: An individual which is homozygous for one or more traits, is said to
be pure line or true breeding. i.e. which breeds true for a character.
Monohybrid: It is heterozygous for one trait.
F1 generation: It is the first filial generation produced from a cross between
pure parents with contrasting characters.
F2 generation: It is the second generation (progeny) produced by selfing
(inbreeding) of F1 generation offsprings.
Punnett square/checkerboard: It is a diagrammatic representation of a cross
to predict the progeny of a cross.
Homologous Chromosomes: These are morphologically, genetically and
structurally identical chromosomes present in a diploid cell.
Back cross: It is a cross of F1 progeny with any of the parents.
Test cross: It is a cross of F1 offspring with homozygous recessive parent
Phenotypic ratio: It is the ratio of the offsprings with respect to their physical
appearance.
Genotypic ratio: It is the ratio of the offsprings with respect to their genetic
makeup.
Monohybrid cross :
It is a cross between parents that differ with respect to only one pair of
contrasting characters.
Dihybrid cross : It is a cross between parents that differ with respect to two
pairs of contrasting characters. Mendel also performed the dihybrid cross
between pea plants that differed in two pairs of contrasting characters.
Mendel’s Laws of Inheritance :
1. Law of Dominance : It states that, “When two homozygous individuals with
one or more sets of contrasting characters are crossed, the alleles (characters)
that appear in F1 are dominant and those which do not appear in F1 are
recessive”.
Law of segregation (Law of purity of gametes): It states that, “When hybrid
(F1) forms gametes, the alleles segregate from each other and enter in different
gametes”.
Gametes are formed by meiosis and hence the 2 alleles for a trait always
segregate during gamete formation and hence the gametes are always pure as
they carry either dominant or recessive allele but never both.
Law of Independent Assortment: It states that, “When hybrid possessing two
(or more) pairs of contrasting factors (alleles) forms gametes, the factors in each
pair segregate independently of the other pair”.
Thus, the alleles of two characters are assorted independently giving rise to
recombinations in the F2 generation.
Back Cross and Test Cross :
Back cross: A cross between the F1 individual with one of its two parents.
Test cross: Fig3.1
• The cross of F1 hybrid with the homozygous recessive parent is known as
a test cross.
• It is used to test whether an individual is homozygous (pure) or
heterozygous(hybrid).
• Test cross is also used to introduce useful recessive traits in the hybrids
of self pollinated plants during rapid crop improvement programs.
Neo-Mendelism: In the post-Mendelian era, certain deviations were observed
in the patterns of inheritance. These deviations are called the Neo-Mendelism.
Gene interactions: Modification of phenotypic expression of one gene by the
other gene is called gene interaction. Gene interactions may be Intragenic
(interallelic) or Intergenic (non-allelic).
Intragenic (interallelic) interactions occur between the 2 or more alleles of same
gene e.g. incomplete dominance and co-dominance.
Intergenic (non-allelic) interactions occur between the alleles of different genes
present on the same or different chromosomes. e.g. pleiotropy, polygenes,
epistasis, supplermetary and complementry genes, etc.

[Link] dominance:
• In the incomplete dominance, both the alleles (genes) of an allelomorphic
pair express themselves partially.
• As a result, there is an the F1 hybrid shows an intermediate expression.
• Incomplete dominance the flower colour of Mirabilis jalapa. A cross
between a red-flowered (RR) and a white-flowered (rr) plant, would yield
F1 offsprings with pink (Rr) flowers.
• Genotypic ratio - 1RR : 2Rr : 1rr
• Phenotypic ratio - 1Red : 2 Pink :1 White.
b. Co-dominance: Fig 3.2
• In co-dominance, both the alleles of a gene express equally in F1 hybrids.
• An example of co-dominance is coat colour in cattle.
• When red cattles (RR) are crossed with white cattles (WW), F1 hybrids
(RW) exhibit roan pattern.
• Roans have the mixture of red and white colour hair on the body ,thus
proving an equal expression of both the traits.
• A cross between two roans would yield F2 generation with red (RR),
roans (RW) and white (WW) the ratio 1:2:1.
• Thus in Co-dominance, the genotypic and phenotypic ratios are identical.
c. Multiple alleles : Table 3.3
• More than two alternative forms (alleles) of a gene in a population
occupying the same locus on homologous chromosome, are known as
multiple alleles. They arise by mutations of the wild type of gene.
• Wild type is dominant over all other mutant alleles.
• There may be several mutants producing a series of multiple alleles.
• The mutants in a series may show how dominant- recessive relations or
may show co-dominance or incomplete dominance among themselves.
 • In Drosophila, the wings pattern ranges from normal wings (wild type,
vg+) to vestigial (vg) wings, through nicked wings(vgni), notched
wings(vgno) and strap wings(vgst).
• The ABO blood grouping in human beings also represent multiple
allelism.
d. Pleiotropy: Fig3.4
• Pleiotropy or pleiotropism involves control of two (or more) different
traits by a single gene.
• Inheritance of sickle-cell anaemia is an example of pleiotropy.
• The disease, sickle-cell anaemia, is due to a gene Hbs, which is recessive
to the normal or healthy gene HbA.
• The carriers (heterozygotes HbA/Hbs) suffer from mild anaemia only
under abnormally low O2 concentration.
• The homozygotes with recessive gene Hbs however, die of total anaemia.
As the gene HbS produces defective haemoglobin, causes RBCs to
become sickle shaped which may block blood flow and oxygen transport
to various internal body organs.
• Thus, a single gene affects several phenotypic charactes.
• A marriage between two carriers will produce normal, carriers and sickle-
cell anaemic children in 1:2:1 ratio. But the Sickle cell anaemics die and
thus the carriers : normals ratio is 1:2.

Chromosomal Theory of Inheritance :

• It was put forth by Sutton and Boveri.
• It identifies chromosomes as the carriers of genetic material.
• It states that the chromosomes are present in pairs in cells.
• During gamete formation homologous chromosomes segregate and assort
independently during meiosis as a result, each gamete has one
chromosome from a pair.
• With a single set of chromosomes, the nucleus of a gamete (sperm and
egg) carries all hereditary traits.
• The haploid gametesform a link between parents and offsprings.
• The fusion of haploid male and female gametes, restores the diploid
number of chromosomes of the species.
Chromosomes: (Chromo = color, soma = body) chart3.5
• These are filamentous bodies present in the eukaryotic nucleus, visible
during cell division.
• They are carriers of heredity
• Eukaryotic chromosomes are Chemically made of DNA, histone and non-
histone proteins.
• They are can self-replicate and play important role in heredity, mutation,
variation, and evolutionary development of eukaryotic species.
• The number of chromosomes is specific and constant for a species and
hence they are important in the study of phylogeny and taxonomy of the
species.
• The degree of repetition of the primary basic number of chromosomes
(i.e. ‘x’) in a cell is called the ploidy.
• When the chromosome number in a cell is the exact multiple of the
primary basic number, then it is called euploidy.
• Euploids may be haploid(n), diploid (2n), triploid (3n), tetraploid (4n) and
so on.
• When the chromosome number is not the exact multiple of the haploid
set, it is described as Aneuploidy. It is either addition or deletion of one
or more chromosome (s) to the total number of chromosomes in a cell.
Structure of chromosome: Fig3.6
• A are highly condensed metaphasic chromosome shows of two
chromatids joined at centromere or primary constriction.
• Primary constriction consists of a disk shape plate called kinetochore
which is the site of attachment of spindle fibres during cell division.
• A few chromosomes may possess additional constrictions called
secondary constrictions.
• Secondary constriction I is the site of nucleolus organization during
interphase.
• Secondary constriction II is for the attachment of satellite body (SAT
body). Each chromatid has a long, unbranched, slender, highly coiled
DNA thread, called Chromonema.
• Chromatid consists a double stranded DNA molecule.
 • Depending upon the position of centromere the chromosomes may be
Acrocentric, Telocentric , Submetacentric and Metacentric.
• The ends of chromosome (i.e. chromatids) are known as telomeres.
Sex Chromosomes: Fig3.7
• These are responsible for the determination of sex (Allosomes).
• Human sex chromosomes are X and Y Chromosomes.
• X chromosome is straight, metacentric and longer than Y chromosome.
• Y chromosome is acrocentric.
• X chromosome has large amount of euchromatin and small amount of
heterochromatin (highly condensed region) and hence is genetically
active.
• Y chromosome has small amount of euchromatin and large amount of
heterochromatin, hence it is genetically less activet.
• Both X and Y chromosome show homologous and non-homologous
regions.
• Crossing over occurs only between homologous regions of X and Y
chromosomes.
• Non-homologous region of X chromosome has more genes(X-linked
genes) than that of non-homologous region of Y chromosome (Y linked
genes).
Linkage and Crossing Over :
Linkage :
Genes located on the same chromosome have a tendency to be inherited
together and are called linked genes.
Linkage is of two types - complete and incomplete linkage:
I. Complete linkage : Completely linked genes are closely located on the
chromosome and do not participate in crossing over and inherit together.
II. Incomplete linkage : Incompletly linked are distantly located on the same
chromosome and may separate during crossing over.
Linkage Groups :
• All the genes on a particular chromosome, constitute one linkage group.
 • The number of linkage groups is the haploid number of chromosomes.
e.g. Drosophila melanogaster has 4 linkage groups as it has 4 pairs of
chromosomes.
• Garden pea has 7 linkage groups and 7 pairs of chromosomes.
Sex-linkage :
• It is the inheritance of X - linked and Y-linked genes from parents to
offspring, It may be Complete sex linkage as exhibited by genes located
on non-homologous regions of X and Y chromosomes.
• Examples: X-linked -Haemophilia, Red-green colour blindness, Myopia
(near sightedness) Y-linked are Hypertrichosis, Ichthyosis, etc.
• It may be Incomplete sex linkage as exhibited by genes located on
homologous regions of X and Y chromosomes.
• Examples of X-Y linked traits are total Colour blindess, Nephritis,
Retinitis pigmentosa, etc.
Crossing Over :
• It is the exchange of genes between non-sister chromatids of homologous
chromosomes that may lead to recombinations.
• It occurs during pachytene of prophase I of meiosis.
• Crossing over occurs in four steps as synapsis, tetrad formation, crossing
over and terminalization.
• It is a universal phenomenon is necessary for variations.
Morgan’s Experiments showing linkage and crossing over : Fig3.8
Experimental animal: Drosophila melanogaster (fruit fly)
It can be easily cultured in laboratory, has a short life span and high rate of
reproduction.
Morgan crossed yellow-bodied, white eyed female to the wild type with brown-
bodied, red eyed males and intercrossed their F1 progeny.
It was observed that the two genes did not show independent segregation as
obvious from the F2 ratio.
The physical association or linkage of the two genes decides the proportion of
parental and non-parental combination in F2 generation.
The strongly linked genes show very few recombinations (1.3 %).
When genes are far away from each other on the chromosome, they show
(higher) recombinations (37.2 %).
Autosomal Inheritance :
Of the 23 pairs of chromosomes in a human somatic cell, there are 22pairs of
autosomes and one pair of sex chromosomes.
The autosomes control the inheritance of body characters other than the sex
linked traits.
Examples of Autosomal inheritance: Dominant traits like Widow’s peak and
Huntington’s disease, etc. and recessive traits like Phenyl ketonuria (PKU),
Cystic fibrosis and Sickle cell anaemia.
a. Widow’s peak : Fig3.9
• Widow’s peak refers to a condition of having a prominent “V” shaped
hairline on forehead both in males and females.
• It is determined by an autosomal dominant gene.
• It is seen in homozygous dominant (WW) and also heterozygous (Ww)
individuals while homozygous recessive (ww) genotype have a straight
hair line.
b. Phenylketonuria (PKU):
• It is an inborn metabolic disorder in which the amino acid phenylalanine
is excreted in urine, hence this disease is called phenylketonuria.
• It is determined by an autosomal recessive gene.
• The homozygous individuals fail to produce the enzyme phenylalanine
hydroxylase and hence can not convert the amino acid phenylalanine into
tyrosine.
• As a result, phenylalanine and its derivatives are accumulated in blood
and cerebrospinal fluid (CSF), thereby affecting the development of brain
and causes mental retardation.
• Autosomal recessive traits appear in both sexes with equal frequency.
These traits tend to skip generations.
Sex Linked Inheritance :
• Genes located on non-homologous region of sex chromosomes, are
called sex-linked genes, the traits that are determined by them , are
called sex-linked traits and their inheritance from parents to their
offsprings, is called sex linked inheritance.
• There are two types of sex-linked genes as X-linked genes and Y-
linked genes.
a. X-linked (sex linked) genes :
• The X linked genes are located on non-homologous region of X
chromosome. Examples include haemophilia, colour blindness, night
blindness, myopia, muscular dystrophy, etc.
• They do not have corresponding alleles on Y chromosome.
• In female these genes are in pairs as there are two X chromosomes. So
a recessive allele may remain suppressed if the other allele is dominant.
Such a female will be a carrier of the recessive gene.
• A male with only one X chromosome however will always express the
X-linked recessive allele as the corresponding dominant allele is
absent.
• X-linked traits therefore appear more frequently in males than in the
females.
b. Y-linked (Holandric) genes :
• The Y linked genes are located on the non-homologous region of Y
[Link]-Hypertrichosis(Hairy Pinnae).
• They are inherited from male to male.
Colour blindness : Fig3.10 Fig3.11
• It is an X-linked recessive disorder in which a person fails to distinguish
between red and green colours.
• The recessive X-linked gene (Xc) which prevents formation of colour
sensitive cells( the cones), in the retina of eye.
• The homozygous recessive females (Xc Xc) and hemizygous recessive
male (XcY) are therefore colourblind, while the heterozygous
female(XCXc) and the hemizygous dominant male(XCY) will have
normal vision.
• The inheritance of colourblindness can be studied in the following two
types of marriages: a. Marriage between colour blind male with normal
female which will produce all the F1 progeny with normal vision. But the
daughter will be carrier for the disease. b. Marriage between carrier
female (daughter) and normal male will produce all female offsprings
with normal vision but half of them will be carriers for the disease. Half
of male offsprings will be normal while remaining half will be colour
blind.
 • Thus, the X linked recessive gene for colour blindness is inherited from
colourblind father to his grandson through his daughter. This type of
inheritance is called as cris-cross inheritance.
Haemophilia (Bleeder’s disease) : Fig3.12 Fig3.13
It is an X-linked recessive disorder in which blood fails to clot or coagulates
very slowly. As a result, even minor injuries cause continuous bleeding, and
hence haemophilia is also called as bleeder’s disease.
The person having recessive gene for haemophilia is deficient in clotting factors
(VIII or IX) in blood. The gene is located on non homologous region of X
chromosome.
The gene for normal clotting is dominant over the recessive genes for
haemophilia.
Like colour blindness, haemophilia also shows criss-cross inheritance.
A marriage between the Haemophilic male and normal female will produce all
the F1 progeny with normalblood clotting. But the daughter will be carrier for
the disease.
Marriage between carrier female (daughter) and normal male will produce all
female offsprings with normal blood clotting but half of them will be carriers
for the disease. Half of male offsprings will be normal while remaining half will
behaemiphiliacs.
Sex Determination :
a. Sex Determination in human beings: (XX-XY type) Fig3.14
• Of the 23 pairs of chromosomes in human, 22 pairs are autosomes and
one pair is sex chromosomes.
• Human female has homomorphic sex chromosomes(44 Autosomes + XX)
while male has heteromorphic sex chromosomes(44 Autosomes +XY).
• Human male is heterogametic as during spermatogenesis in testis, two
types of haploid sperms are produced, 50% sperms with 22 autosomes +X
while, 50% sperms with 22 autosomes +Y.
• Human female is homogametic, as during oogenesis in ovaries only one
type of egg is produced. All eggs will be with 22 autosomes+X.
 • If X sperm fertilizes egg (ovum), then the resulting diploid zygote grows
into a female child. If Y sperm fertilizes the egg, theresulting diploid
zygote grows into a male child.
• Thus, the sex of a child depends on the type of sperm fertilizing the egg.
b. Sex Determination in birds : (ZW-ZZ type) Fig3.15
• In birds, the females are heterogametic and produce two types of eggs;
50% eggs with Z- chromosome, while 50% eggs with W- chromosome.
• Males are homogametic and produce one type of sperms i.e.Z-sperm.
• Thus sex of individual is determined by the type of egg (ova) fertilized
by the sperm.
c. Sex Determination in honey bees : (Haplo-diploid type) Fig3.16
• In honey bees the females are diploid (2n=32) and m Fig3.7ales are
haploid (n=16).
• The female produces haploid eggs (n=16) by meiosis and male produces
haploid sperms (n=16) by mitosis.
• If the egg is fertilized by sperm, the zygote develops into a diploid female
(2n=32, queen and worker) while the unfertilised egg parthenogenetically
develops into haploid male (n=16, Drone) .
Genetic Disorders :
• Genetic Disorders may be Mendelian disorders and chromosomal
disorders.
• Mendelian discorders are mainly caused due to alteration or mutation
in the gene. e.g. thalassemia, sickle-cell anaemia, colourblindness,
haemophilia, phenylketonuria, etc.
• Chromosomal disorders are caused due to absence or excess of one or
more chromosomes or their abnormal arrangment. For eg, Down’s
syndrome, Turner’s syndrome, Klinefelter’s syndrome etc.
Thalassemia :
• It is an autosomal, recessive disorder due to synthesis of defective
Haemoglobin molecule.
• Haemoglobin molecule has four polypeptide chains- 2 alpha (a) and 2
beta (b) chains.
 • The synthesis of alpha chains are controlled by two genes (HBA1 and
HBA2) on chromosome 16 while the synthesis of beta chain is controlled
by a single gene (HBB) on chromosome 11.
• Thalassemia is caused due to deletion or mutation of gene which codes
for alpha (a) and beta (b) globin chains that result in abnormal synthesis
of haemoglobin.
• Symptoms of Thalassemia include anaemia, pale yellow skin, change in
size and shape of RBCs, slow growth and development, dark urine, etc.
• Massive blood transfusion is needed to these patients.
Down’s Syndrome (21st trisomy) : Fig3.17 Fig3.18
• It is an autosomal disorder caused due to presence of three copies of 21st
chromosome(Trisomy).
• These individuals will have 47 chromosomes instead of the normal
number 46.
• It occurs due to non-disjuction of chromosomes (21st pair) during gamete
formation.
• The characteristic features of this disorder are moderate mental
retardation, poor skeletal development, small head, ears and mouth, flat
rounded face with flat nose, open mouth, protruding tongue, slanting
eyelids with internal epicanthal folds, flat hands and stubby fingers and
palm with single crease.
Turner’s Syndrome : (X monosomy / XO females)
• It is sex chromosomal disorder caused due to non-disjunction of
chromosome during gamete formation.
• Individual with Turner’s syndrome has 44 autosomes with XO.
• They are phenotypically female.
• They have a short stature (height) and webbed neck, lower posterior hair
line, broad shield-shaped chest, poorly developed ovaries and breast, and
low intelligence.
Klinefelter’s syndrome (XXY males) :
• It is a sex chromosomal disorder caused due to an extra X chromosome
in males.
• Thus, genotype of individuals is 44 + XXY. The extra X chromosome
is a result of non-disjunction of X-chromosome during meiosis.
• They are feminized tall, sterile males with masculine development,
long arms, high pitched voice, developed breasts(Gynaecomastia) and
under developed testis.