Course code: PLB 101

Course Title: Introductory Genetics

Credit Hours: 3(2+1)
Reference:
Gardner, E.J., M.J. Simmons and D.P. Snustad,
2011. Principles of Genetics (8th Ed.). John Wiley and
Sons Pvt. Ltd. Singapore.
Griffiths, A.J.F., S.R. Wessler, S.B. Carroll and J.
Doebley, 2012. An Introduction to Genetic Analysis
(10th Ed.). W.H. Freeman and Company. New York.
USA.
Singh, B.D., 2007. Fundamental of Genetics (3rd Ed.).
Kalyani Publishers. New Delhi. India.
Strickberger, M.W., 2012. Genetics (3rd Ed.).PHI
Learning Private Limited. New Delhi. India.
Course Contents
A. Theory :
1.Introduction, History and Scope of Genetics and Relationship 1
2. Cell cycle and Cell Division (Mitosis, Meiosis) 2
3.Life Cycle (Maize and Human, Virus, Bacteria,) 3
4.Mendelian genetics 3
5.Gene actions and interactions 2
6.Probability and Chi square testing 2
7.Linkage and Crossing over 2
8.Sex determination and Sex linkage 3
9.Extra nuclear/maternal/cytoplasmic inheritance 2
10.Nucleic Acids 4
11. Gene Regulation and Transposable genetic elements 2
12. Mutation and mutagenes 2
13. Chromosomal Aberrations 2
Course Contents
B. Practical:
1. Study of diagrams of mitosis 1
2. Study of diagrams of meiosis 1
3. Microscopic study of different stages of mitosis 1
4. Microscopic study of different stages of meiosis 1
5. Solution of numerical problems related to Mendel‟s law of segregation 1
6. Solution of numerical problems related to Mendel‟s law of independent assortment 1
7. Solution of numerical problems related to Gene actions 1
8. Solution of numerical problems related to Gene interactions 1
9. Probability 1
10. Chi square test 1
11. Solution of numerical problems related to Linkage 1
12. Solution of numerical problems related to crossing over 1
13. Numerical analysis of Sex determination and sex linkage 1
14. Microscopic study of DNA and RNA 1
15. Field demonstrtion of cytoplsmic /genetic male sterility 1
Introduction,
History,
& Scope
of Genetics
and
Relationship
Introduction, History and Scope of Genetics and Relationship
Two important concept unify modern biology:
a. All living things are highly ordered systems with properties
determined to a large extent.
b. Persistence of ordered living system over long period of
time through heredity and evolution- the continuity of life,
or descent with modification.
Heredity is the process by which all living things produce
offspring unquestionably like themselves.
This capacity of complex biological system for self
reproduction involves the transformation of information that
specifies a particular pattern of growth and organization from
parent to offspring.
Genetics is the science of heredity. It concerned with;

a. The physical and chemical properties of the

heredity material
b. How this material is transmitted from one
generation to the next, and
c. How the information it contains is expressed in the
development of an individual.
 Organisms resemble one another because they have
received heredity information from some common
ancestor.
 Since species continue to exist through many
generations, the heredity material must be inherently
stable.
 However, within most species, immense heredity
diversity is present.
 A familiar example is the variation that exists among
humans, even those as closely related as sisters or
brothers.
 Heredity variability is an essential factors in evolution.
 Evolution is cumulative change in the genetic
characteristics of population of organisms through
time.
Evolution is the most important generalization in
biology .
It is the process that enables us to understand the
origin of the enormous number of species of living
things and, relation between them.
It provides the logical basis for understanding how
the complex organisms existing today were derived
through continuous lines of descent, with
modification, from the first primitive organisms.
The development of modern ideas concerning the
process involved in evolution began is 1858 with the
proposal by Charles Darwin that
New species are formed through the action of
environmental forces on heredity variation
present in populations
This mechanism of evolutionary change which Darwin
called Natural Selection is an idea based on three
observations;
1. All most all species produce more offspring than
can possibly survive and reproduce
2. A great deal of variability affecting survival and
reproduction is present in most population
3. At least some of this variability is inherited.
From these three observations Darwin reasoned that
individuals differing even slightly in any way that
makes them better adopted to their environment will
have a higher rate of survival and reproduction.

Furthermore, to the extent that the advantageous

variation are heredity, they will tend to increase in
frequency in succeeding generations.

The role of natural selection in evolutionary change

was clear to Darwin, but he was unable to explain
 Either the source of the inherited variation
 Or the process of heredity transmission.
In 1866, Gregor Johan Mendel published the results of
experiments in which he had investigated
inheritance in garden peas.
From these findings he deduced
a. the existence of discrete heredity elements, and
b. the rules determining their behavior in
reproduction.
The principle of inheritance that Mendel recognizes
were to become the foundation of genetics and a
key to development of modern biology.
But their significance was not appreciated until 1900.
(C.E. Correns, H. de Vries and E. Tschermak)
Genetics is the biological science which deals with the
mechanism of heredity and causes of variations in living
beings.
The word genetics was derived from the Greek root gen
which means to become or to grow into and it was coined
by Bateson in 1906.

Cytogenetics is a branch of genetics that correlates the

structure, number and behaviour of chromosomes with
heredity and variation.

Cytology (Greek words, Kytos = hollow vessel or cell;

logous = to discourse) or cell biology is the biological
science which deals with the study of structure, function,
molecular organization, growth, reproduction and genetics
of the cells.
Year Scientist Contribution

1485 L. da Vinci Recommended the use of lenses for viewing small objects

1590 Z. Janssen and H. Janssen Produced the first operational microscope.

1665 R. Hooke Introduced the term “ cell ” and described cork cells.

1668 F. Redi Disproved the theory of spontaneous generation of

maggots.
1672 Malphigi Classified the tissues.

1674 A.van Leeuwenhoek Improved lens system of microscope by grinding.

1682 N. Crew Described bladders and pores in wood and pith.

1694 J.R. Camerarius Conducted early experiments on pollination and
reported the existence of sex in plants.

1700 Carolus. Linnaeus Classified the biological organisms.

1761 J.C. Kolreuter Hybridized various species of tobacco and
concluded that each parent contributed equally to
Year Scientist Contribution
1779 C.F Wolff Founder of embryology.
.
1809 J.B. Lamarck Coined the word “ biology ” and stressed the
importance of cell in living organisms. He put forth
the theory of inheritance of acquired characters
1824 Dutrochet Showed that all plants and animals are composed
of cells.
.
1825 F.V. Raspail Developed the frozen-section technique and used
iodine for detection of starch.

1835 H. von Mohli Emphasized the importance of protoplasm and

described cell division
1837 R. Brown Discovered the nucleus in cells of flowering plants.

1838 M.J. Schleiden and Formulated the cell theory in plants and animals.
T. Schwann

1840 J.E. Purkinj Gave the term “ protoplasm ”.

.
1845 A. Donne Used photomicroscopy for the first time
Year Scientist Contribution
1871 F. Meischer Isolated nucleic acids from pus cells.
.
1873 H. Fol Described spindle and astral rays.
1875 Strasburger Discovered cell division in plants and gave the terms “
cytoplasm ” and “ nucleoplasm ”.

1879 W. Flemming Introduced the term “ chromatin ”.

1879 H. Fol Showed that only one sperm enters the egg during
fertilization.
1881 E.G. Balbiani Discovered giant chromosomes in salivary glands of
Drosophila.

1882 W. Flemming Coined the term “ mitosis ” .

1883 W. Rouse Proposed that chromosomes contain genes which are

the units of heredity.
Year Scientist Contribution
1885 A.F.W. Schimper Introduced the term “ plastids ”.

1888 Th. Boveri Coined the term “ centrosomes ”.

1888 W. Waldeyer Coined the term “ chromosomes ”.

1892 O. Hertwig Proposed the protoplasm theory of inheritance.

1892 J. Ruckert Described lamp brush chromosomes in oocytes of

shark.

1892 W. Weisman Stated that chromosomes are the most important part of
the nucleus.

1898 C. Benda Discovered mitochondria in spermatozoa and other

cells.

1899 S. Altman Introduced the term “ nucleic acid ”.

1900 C.E. Correns, H. de Vries Re-discovered Mendel’s laws of inheritance.

and E. Tschermak
Year Scientist Contribution
1902 H. de Vries Coined the term “ mutation ”.

1902 W.S. Sutton Proposed the chromosome theory of heredity and identified
Th. Boveri chromosomes as carriers of genetic material.

1903 W. Waldeyer Proved centromeres are the chromosomal regions with which the
spindle fibres become associated during mitosis

1905 J.B. Farmer and Coined the term “ meiosis ”.

J.E. Moore

1906 W. Bateson Coined the term “Genetics” and proposed the concept of allele.
1906 W.L. Johannsen Coined the terms “gene”, “genotype” and “phenotype”.
1909 W. Bateson Coined the term “ epitasis ”.

1909 F.A. Janssens Indicated that chiasmata are produced by exchanges between non-
sister chromatids of homologous chromosomes.

1910 T.H. Morgan Studied crossing over and recombination in Drosophila

and coined the term “ crossing over ”.
Year Scientist Contribution
1926 A.H. Sturtevant Discovered inversions in chromosomes.

1927 G.K. Karpechenko Synthesized Raphano brassica.

1927 H.J. Muller Induced mutations in Drosophila melanogaster by X-rays

1928 L.J. Stadler Induced mutations in maize and barley by X-rays.

1933 M. Rhodes Reported cytoplasmic male sterility in corn.

1950 B. McClintock Discovered jumping genes in maize.

1951 A. Muntzing Synthesized Triticale.

1953 J.D. Watson, F.H.C. Proposed the double helix model for DNA molecule.
Crick and M.H.F.
Wilkins

1955 S. Benzer Described the fine structure of gene–Cistron, Recon and

Muton.
1958 G.W. Beadle, Put forth the one gene – one enzyme hypothesis.
E.L. Tatum and
J. Lederberg
Year Scientist Contribution
1958 H.C. Crick Explained the central dogma of molecular biology.

1958 M.S. Meselson Proved experimentally that DNA replicates by semi-

and F.W. Stahl conservative
mechanism.
1961 A.E. Jacob and Explained the genetic regulatory mechanism in protein
J. Monod synthesis – Operon concept.

1978 D. Nathans , Isolated restriction enzymes.

H.O. Smith and
W. Arber

1986 Ow Transferred and studied the expression of gene for enzyme

lucifersase (causes fire flies to glow) in tobacco cells.
1993 Smith Studied site directed mutagenesis
Karyotype and Ideogram:
 The general morphology (size of chromosomes, position of
centromere, presence of secondary constriction and size of
satellite bodies) of somatic chromosomal complement of an
individual constitutes its karyotype.
 It can be defined as “the characteristic features by which a set
of chromosomes of a species is identified”.
 Generally, karyotype is represented by arranging the
chromosomes in descending order of size, keeping their
centromeres in the same line.
 Thus the largest chromosome is placed on extreme left and the
shortest on extreme right.
 The karyotype of a species can be represented
diagrammatically showing all the morphological features of
chromosomes.
 Such a diagram is known as ideogram or ideotype.
Name of the Chromosome Name of the Chromosome
organism number (2n) organism number (2n)

Rice 24 Human Beings 46

Tomato 24 Drosophila 8

Wheat 42 Cotton 52
Onion 16 Garden Pea 14
Maize 20 Arabidopsis 10
 CELL CYCLE
AND
CELL DIVISION
CELL CYCLE
Cell cycle can be defined as the entire sequence of
events happening from the end of one nuclear division
to the beginning of the next.
A cell cycle consists of two phases, viz., 1) interphase
and 2) the cell division proper.
The time required for the completion of cell cycle
differs from species to species.
Interphase
Interphase is generally known as DNA synthesis phase.
 Interphase consists of G1, S and G2 sub phases.
 G1 is the resting phase, S is the period of DNA
replication and G2 again is a resting stage after DNA
replication.
G1 Phase:
 It is a pre-DNA replication phase.
 Thus, this is a phase between telophase and S phase. This is
the longest phase
 It is the most variable period of cell cycle.
 Synthesis of proteins and RNA take place during this phase.
S (Synthetic) Phase:
 This phase comes after G1and takes lesser time than G1phase.
 The chromosome and DNA replications take place during this
phase.
G2 Phase:
 This is the post-DNA replication phase and last sub stage of
interphase.
 Synthesis of protein and RNA occur during this stage.
CELL DIVISION
 All the cells are produced by division of pre-existing cells.
 Continuity of life depends on cell division.
 In the cell division, the division of nucleus is called
karyokinesis and division of cytoplasm is called cytokinesis.
 The cell division is of two types. 1) Mitosis and 2) Meiosis
MITOSIS
 The term mitosis was coined by Flemming in 1882. Mitosis
occurs in somatic organs like root tip, stem tip and leaf base
etc.
 Hence it is also known as somatic cell division.
 The daughter cells are similar to the mother cell in shape, size
and chromosome complement.
 Since the chromosome number is same in the daughter cells as
compared to that of mother cell, this is also known as
homotypic or equational division.
Mitotic cell cycle includes the following stages:
Interphase :
This is the period between two successive divisions.
Cells in interphase are characterized by deeply
stained nucleus that shows a definite number of
nucleoli.
The chromosomes are not individually
distinguishable but appear as extremely thin coiled
threads forming a faintly staining network.
The cell is quite active metabolically during
interphase.
Mitosis consist of four stage, viz., (a) Prophase, (b)
Metaphase, (c) Anaphase and (d) Telophase
Prophase:
The nucleus takes a dark colour with nuclear
specific stains and also with acetocarmine / orcein.
The size of the nucleus is comparatively big and the
chromosomes that are thin in the initial stages
slowly thicken and shorten by a specific process of
coiling.
The two chromatids of a chromosome are distinct
with matrix coating and relational coiling.
The disintegration of nuclear membrane denotes the
end of prophase.
Metaphase:
After the disintegration of nuclear membrane, the shorter and
thicker chromosomes will spread all over the cytoplasm.
Later, the size of the chromosomes is further reduced and
thickened.
The distinct centromere of each chromosome is connected to the
poles through spindle fibres.
The chromosomes move towards equator and the centromere of
each chromosome is arranged on the equator.
This type of orientation of centromeres on the equator is known
as auto-orientation.
The chromosomes at this stage are shortest and thickest.
The chromatids of a chromosome are held together at the point
of centromeres and the relational coils are at its minimum.
Anaphase:
The centromere of each chromosome separates first
and moves to towards the poles.
Depending on the position of the centromeres
(metacentric, acrocentric and telocentric), the
chromosomes show ` V `, ` L ` and ` I ` shapes
respectively as the anaphase progresses.
The sister chromatids move to the poles.
The chromosome number is constant but the
quantity of each chromosome is reduced to half.
Telophase:
Chromosomes loose their identity and become a
mass of chromatin.
The nucleus will be re-organized from the
chromatin.
At late telophase stage, the cell plate will divide the
cell into two daughter cells.
Cytokinesis :
The division of cytoplasm usually occurs between
late anaphase and end of telophase .
 In plants, cytokinesis takes place through the
formation of cell plate, which begins in the centre of
the cell and moves towards the periphery in both
sides dividing the cytoplasm into two daughter cells.
In animal cells, cytokinesis occurs by a process
known as cleavage, forming a cleavage furrow.
Significance of Mitosis
Mitosis plays an important role in the life of living organisms in
various ways as given below:
1. Mitosis is responsible for development of a zygote into adult
organism after the fusion of male and female gametes.
2. Mitosis is essential for normal growth and development of living
organisms. It gives a definite shape to a specific organism.
3. In plants, mitosis leads to formation of new organs like roots,
leaves, stems and branches. It also helps in repairing of damaged
parts.
4. It acts as a repair mechanism by replacing the old, decayed and
dead cells and thus it helps to overcome ageing of the cells.
5. It helps in asexual propagation of vegetatively propagated crops
like sugarcane, banana, sweet potato, potato, etc. mitosis leads to
production of identical progeny in such crops.
6. Mitosis is useful in maintaining the purity of types because it
leads to production of identical daughter cells and does not allow
segregation and recombination to occur.
7. In animals, it helps in continuous replacement of old tissue with
new ones, such as gut epithelium and blood cells.
MEIOSIS
The term meiosis was coined by J.B. Farmer in
1905.
This type of division is found in organisms in which
there is sexual reproduction.
 The term has been derived from Greek word;
Meioum = diminish or reduce.
The cells that undergo meiosis are called meiocytes.
Three important processes that occur during meiosis
are:
1. Pairing of homologous chromosomes (synapsis)
2. Formation of chiasmata and crossing over
3. Segregation of homologous chromosomes
The first division of meiosis results in reduction of
chromosome number to half and is called reduction
division.
The first meiotic division is also called heterotypic
division.
Two haploid cells are produced at the end of first
meiotic division and in the second meiotic division, the
haploid cells divide mitotically and results in the
production of four daughter cells (tetrad), each with
haploid number of chromosomes.
In a tetrad, two daughter cells will be of parental types
and the remaining two will be recombinant types.
The second meiotic division is also known as
homotypic division.
Both the meiotic divisions occur continuously and each
includes the usual stages viz., prophase, metaphase,
anaphase and telophase.
Meiotic cell cycle involves the following stages:
Interphase :
 Meiosis starts after an interphase which is not very different from that of an
intermitotic interphase.
 During the premeiotic interphase DNA duplication occurs during the S phase
Meiosis-I:
A. Prophase-I:
 It is of a very long duration and is also very complex.
 It has been divided into the following sub-stages:
a. Leptotene or Leptonema:
 Chromosomes at this stage appear as long thread like structures that are
loosely interwoven.
 In some species, on these chromosomes, bead-like structures called
chromomeres are found all along the length of the chromosomes.
b. Zygotene or Zygonema:
 It is characterized by pairing of homologous chromosomes (synapsis ),
which form bivalents.
 The paired homologous chromosomes are joined by a protein containing
frame work known as synaptonemal complex.
 The bivalents have four strands
c. Pachytene or Pachynema:
 The chromosomes appear as thickened thread-like structures.
 At this stage, exchange of segments between non-sister chromatids of
homologous chromosomes known as crossing over occurs.
 During crossing over, only one chromatid from each of the two homologous
chromosomes takes part.
 The nucleolus still persists.
d. Diplotene or Diplonema:
 At this stage further thickening and shortening of chromosomes takes place.
Homologous chromosomes start separating from one another.
 Separation starts at the centromere and travels towards the ends
(desynapsis).
 Homologous chromosomes are held together only at certain points along the
length.
 Such points of contact are known as chiasmata and represent the places of
crossing over.
 The process of terminalization is completed at this stage.
e. Diakinesis:
Chromosomes continue to undergo further
contraction.
The bivalents appear as round darkly stained bodies
and they are evenly distributed throughout the cell.
The nuclear membrane and nucleolus disappear
B. Metaphase-I:
 The chromosomes are most condensed and have smooth outlines.
 The centromeres of a bivalent are connected to the poles through
the spindle fibres.
 The bivalents will migrate to the equator before they disperse to the
poles.
 The centromeres of the bivalents are arranged on either side of the
equator and this type of orientation is called co-orientation.
C. Anaphase-I:
 The chromosomes in a bivalent move to opposite poles
(disjunction).
 Each chromosome possess two chromatids.
 The centromere is the first to move to the pole.
 Each pole has a haploid number of chromosomes
D. Telophase-I:
 Nuclear membranes are formed around the groups of chromosomes
at the two poles.
 The nucleus and nucleolus are reorganized
Meiosis-II:
The second meiotic division is similar to the mitotic
division and it includes the following four stages:
A. Prophase-II:
 The chromosomes condense again. The nucleolus and
nuclear membrane disappear.
 The chromosomes with two chromatids each become
short and thick
B. Metaphase -II:
Spindle fibres appear and the chromosomes get
arranged on the equatorial plane(auto-orientation).
This plane is at right angle to the equatorial plane of the
first meiotic division.
C. Anaphase-II:
Each centromere divides and separates the two
chromatids, which move towards the opposite poles.
D. Telophase-II:
The chromatids move to the opposite poles The
nuclear envelope and the nucleolus reappears.
Thus at each pole, there is re-organization of haploid
nucleus.
Cytokinesis:
The division of cytoplasm takes place by cell plate
method in plants and by furrow method in animals.
The cytokinesis may take place after meiosis I and
meiosis II separately or sometimes may take place at
the end of meiosis II only.
Significance of Meiosis
Meiosis plays a very important role in the biological populations in
various ways as given below:
1. It helps in maintaining a definite and constant number of
chromosomes in a species.
2. Meiosis results in production of gametes with haploid (half)
chromosome number. Union of male and female gametes leads to
formation of zygote which receives half chromosome number from
male gamete and half from the female gamete and thus the original
somatic chromosome number is restored.
3. Meiosis facilitates segregation and independent assortment of
chromosomes and genes.
4. It provides an opportunity for the exchange of genes through the
process of crossing over. Recombination of genes results in
generation of variability in a biological population which is
important from evolution points of view.
5. In sexually reproducing species, meiosis is essential for the
continuity of generation. Because meiosis results in the formation
of male and female gametes and union of such gametes leads to the
development of zygotes and thereby new individual.
Mitosis Meiosis
Consists of one nuclear division Consists of two nuclear divisions
One cell cycle results in production of One cell cycle results in production of
two daughter cells four daughter cells

The chromosome number of daughter Daughter cells contain half the

cells is the same as that of mother chromosome number of mother cell (n)
cell (2n)

Daughter cells are identical with Daughter cells are different from
mother cell in structure and mother cell in chromosome number
chromosome composition and composition

It occurs in somatic cells It occurs in reproductive cells

Total DNA of nucleus replicates About 0.3% of the DNA is not
during S phase replicated during S phase and it occurs
during the zygotene stage.

The prophase is not divided into sub The prophase I is divided into five sub
stages stages

There is no pairing between Homologous chromosomes pair during

homologous chromosomes zygotene
Mitosis Meiosis

Segregation and recombination do Crossing over takes place during

not occur pachytene

Chromosomes are in the form of dyad Chromosomes are in the form of tetrad
at metaphase at metaphase

The centromeres of all the The centromeres of all the

chromosomes lie on the equatorial chromosomes lie on either side of the
plate (auto orientation) during equatorial plate (co-orientation) during
metaphase metaphase I

At metaphase, centromere of each The centromere does not divide at

bivalent divides longitudinally metaphase I

One member of sister chromatids One member of homologous

moves to opposite pole during chromosomes moves to opposite poles
anaphase during the anaphase I

Maintains purity due to lack of Generates variability due to

segregation and recombination segregation and recombination
 Life
Cycle
Life cycle of Virus
Some characteristics
Acellular, non cytoplasmic infectious agents.
Smaller than bacteria, they pass through
bacteriological filter.
Transmissible from diseased to healthy organisms.
Obligate parasites, can multiply within the living
host cells.
Contains only one type of nucleic acid either DNA
or RNA
Host specific single species.
Structure
1. Shape and size
 spherical, rod, tadpole like, helical
 10 nm to 300 nm
 plant viruses are smaller than
bacterial or animal viruses
2. Chemical structure and composition
 Nucleic acid core:
either DNA or RNA, RNA either single or double stranded
plant virus : either DNA or RNA, RNA either single or double
stranded
bacterial virus: DNA single or double stranded, RNA single
stranded
 Capsid or protein coat
Made of many identical protein sub units called as capsomeres.
Capsomeres are composed of either one or several types of
proteins.
Classification
Plant virus: e.g., tobacco mosaic virus (TMV)
Bacterial virus: e.g., bacteriophage
Animal virus: e.g., influenza virus
Mycophages: e.g., parasitic fungi

Transmission by
Seeds
Insects
Nematodes
Vegetative and grafting propagation
Mechanical methods
Reproduction
Do not have their own metabolic activity and hence
use cellular ATP, ribosome, t-RNA and biosynthetic
products of host cells.
Replicate inside the host cells.
Nucleic acid of virus replicates and protein coat
produces.
Steps involved in multiplication/reproduction
1. Phage attaches itself to the wall surface of bacterium with the
help of tail fiber and end plate.
2. The tail sheath contracts and the nucleic acid is injected into
the bacterium cell. The empty protein coat called as ghost,
remains attached to the bacterium for sometime.
3. Phage DNA now takes over the protein synthesizing
machinery of bacterium host and inactivates the DNA of
bacterium.
4. Phage DNA replicates and also synthesizes new protein for its
capsid.
5. Protein coat assembled spontaneously around the phage DNA.
6. Ultimately, the bacterial cell brusts (the process is called as
lysis) and new phage particles are liberated. These particles
are capable of infecting other bacteria of the same type.
The entire process of multiplication takes place within 30
minutes. This is called as the latent period.
Life cycle of Bacteria

General characteristics
Considered to be plants because of having rigid cell
wall.
Lacks nuclear membrane, so distinct nucleus and
nucleolus absent.
Most of bacteria lack chlorophyll called heterotrophic,
few bacteria posses chlorophyll called as autotrophic.
Genetic material represented by histone free DNA.
Commonly reproduce vegetatively by fission.
Variations in the genetic character are due to genetic
recombinations by conjugation, transformation and
transduction.
Shape and Size
1. Rod shape or bacillus: Diplobacillus, Streptobacillus
2. Coccus or spherical: Micrococci, Diplococcus,
Streptococcus
3. Spiral or helical: Spirillum minus; Chlamydophila
psittaci
4. Pleomorphic: E.g. Mycoplasma pneumoniae, M.
genitalium
Average size: 0.5 to 1.0 X 2.0 to 5.0 µm.
Length: longest 80 µm: Bacillus butschlii.
Shortest: 0.15 µm to 0.31µm : Dialister pneumosintes.
Reproduction
1. Vegetative reproduction
i) binary fission
ii) budding:
Most budding bacteria develop cytoplasmic extrusions,
such as stalks (Caulobacter), hyphae
(Hyphomicrobium), and appendages (Stella).
2. Asexual reproduction
i) endospore: Bacillus ii) conidia: Streptomyces
iii) zoospores: chlamydonas iv) cysts: Acetobacter
3. Sexual reproduction
i) conjugation ii) transformation
iii) transduction (general and specialized)
Binary fission
• Commonest and most important method
• Cell elongation and formation of transverse wall
• Production of two daughter cells

• Budding
• Cell produces outgrowths called buds.
• Cytoplasm and the chromatin materials also enter
the bud which later separates from the parent cell
by constriction.
• The separated bud takes the form of a new bacterial
cell.
Sexual reproduction in bacteria

Sexual reproduction in bacteria does not involve

production of gametes and their subsequent fusion.
Instead, genetic recombination, similar to those
resulting from normal reproduction, are produced
but by different processes.
They are as:
a. Transformation
b. Transduction
c. Conjugation
Transformation:
 This process in bacteria was demonstrated by Griffith in
1928.
 It is the process by which a donor DNA molecule is
taken up from the external environment and
incorporated into the genome of a recipient cell.
 In transformation of some bacterial species, a fragment
of double stranded DNA is transported across the cell
membrane of competent cells, is converted into a single
stranded DNA, and then is physically integrated into the
recipient cell‟s genome, replacing its homologous
sequence.
 One of the DNA strands is hydrolysed by a membrane
bound exonuclease, providing energy to help fuel DNA
transport across the membrane.
 In transformation process, the donor and the recipient
cells do not come in contact.
Transduction:
It is the process by which DNA is transferred from
one bacterial cell to another cell by a virus
(bacterial virus) that acts as intermediately carrier.
Certain virus that can infect bacterial cells, picks up
fragment of bacterial DNA and injects these genes
into another bacterium, transferring genetic
material from one bacterium to another.
 It is of two types.
General transduction: In which the phage can transfer
any segment of the bacterium genome to another
bacterium.
Specialized transduction: In which only restricted
segments of the bacterium genome are transferred.
Conjugation
 The process of conjugation was discovered by
Lederberg and Tatum in Escherichia coli in 1946.
Conjugation involves direct contact between donor
and recipient bacteria.
Union of sex cells (gametes) or unicellular
organisms during fertilization.
In E. coli, a way transfer of genetic material from a
donor, male to a recipient, female.
Types of mating
a. F+ X F- mating
b. Hfr (high frequency recombination) X F- mating
Life cycle: Human
Spermatid: the haploid cell, resulting from meiosis of
a primary spermatocyte that will mature into sperm.
Spermatocyte: the cell that undergoes meiosis to
produce 4 spermatids.
Spermatogenesis: process of development of sperms.

Oocyte: the diploid cell that will under go meiosis to

form egg.
Oogenesis: process of development of eggs.
Life cycle: Human
 In the male reproductive organ, the testes,
spermatogonial cells divide mitotically forming a
group of diploid primary spermatocytes.
Each primary spermatocyte divides meiotically
forming two secondary spermatocytes in the first
reductional division.
Each secondary spermatocyte divides meiotically
forming two spermatids.
Finally spermatid develops into spermatozoa,
which is the male gamete.
Thus one primary spermatocyte yields 4 haploid
sperm cells.
 In the female, oogonial cells in the ovary produce a
group of diploid primary oocytes.
 Each oocyte divides meiotically forming two secondary
oocytes in the first reductional division (the smaller one
is known as first polar body).
 The first polar body yields two polar bodies again. The
big secondary oocyte produces an ovum and a polar
body.
 The ovum is the female gamete.
 All together, there are three polar bodies, which are non
functional.
 Thus, at the last, one primary oocyte yields only one
haploid ovum cell, which is functional.
 The fusion of male gamete (sperm) and female gamete
(ovum) forms a zygote.
 Then the zygote develops into man/woman.
Life cycle of Maize (Zea mays)
Sporogenesis: process of production of spores;
microspore or megaspores.
Microsporogenesis: each pollen mother cell (PMC)
undergoes meiosis to produce 4 haploid
microspores, so the process is called as
microsporogenesis.
Megesporgenesis: the megaspore mother cell
(MMC) undergoes meiosis to produce 4 haploid
megaspores, three megaspores degenerate leaving
one functional megaspore. This process is known
as megasporogenesis.
Gametogenesis: process of production of male and
female gametes in the micro and megaspores
respectively.

Microgametogenesis: process of production of male

gamete (n).

Megagametogenesis: process of production of female

gamete (n).

Microgametophyte: it is the male gamete.

Megagametophyte: it is the female gamete.

i) Production of male gamete(s)
Each anther has 4 pollen sacs, which contain numerous
pollen mother cells (PMCs).
 The PMC has 2n number of chromosomes.
Each PMCs undergoes meiosis cell division to produce
4 haploid cells (microspores).
The microspore contains n number of chromosomes.
The microspore nucleus divides mitotically to produce a
generative and a vegetative nucleus.
The generative nucleus undergoes a mitotic cell division
to produce two male gemetes.
Hence, at the end of gametogenesis, one
microsporocyte produces 4 microspores or 8 male
gametes.
ii) Production of female gamete(s)
• A single cell in each ovule differentiates in a megaspore
mother cell (MMC).
• The MMC has 2n number of chromosomes.
• The MMC undergoes meiosis cell division to produce 4
haploid megaspores.
• Each megaspore contains n number of chromosomes. Three
megaspores degenerate leaving one functional megaspore
per ovule.
• The nucleus of functional megaspore divides mitotically to
produce 8 nuclei.
• Three of these nuclei move to one pole and produce a central
„egg cell‟ and 2 synergids.
• Another 3 nuclei migrate to the opposite pole to give rise to
antipodal cells.
• Two nuclei remaining in the centre, the polar nuclei, fuse to
form a secondary nucleus (diploid).
iii) Fertilization and double fertilization
The fusion of one of the two sperms (male gametes)
with the egg cell (female gamete) to form a zygote is
known as fertilization.
The fusion of the remaining sperm (male gamete) with
the secondary nucleus leading to the formation of
triploid endosperm nucleus is known as triple fusion or
double fertilization.
The triploid endosperm nucleus contains 3n number of
chromosomes.
Hence, one of the two male gametes unites to the egg
cell (female gamete) to form a zygote and it divides
mitotically to produce diploid embryo.
During seed development endosperm provides nutrition
to the developing embryo
MENDELIAN
GENETICS
MENDELIAN GENETICS
The term genetics was first used by W. Bateson in
1906.
It is often described as a biological science which
deals with heredity and variation.
Heredity includes those characters which are
transmitted from generation to generation and is
therefore fixed for a particular individual.
 The differences among the individual of a species
for a character constitutes the variation for that
character.
Variation on the other hand can be of two types.
Hereditary variation:
 refers to the differences in the inherited traits.
 Such variations are found not only in the progeny of
different parents but also among the progeny from the
same parents.
 E.g.: Differences in pattern of stripes in zebra,
differences in length of neck in giraffes.
 Identical twins however are examples where there is no
hereditary variation.
Environmental Variation:
It is entirely due to environment.
E.g.: 1. Difference in skin colour.
2. Under inadequate supply of water and N, a tall
plant does not grow properly. So it may become
dwarf.
Seven characters of P. sativum examined by Mendel and a summary of the genes,
phenotypes, and presumed mutations involved
Characters chosen by Mendel for his study
Character Dominant form Recessive form
Plant height Tall Dwarf
Seed texture (shape) Round Wrinkled
Seed (cotyledon) colour Yellow Green
Flower / seed coat colour Violet/ grey White
Pod colour Green Yellow
Pod shape Inflated Constricted
Position of flowers Axial Terminal
Mendel’s experiments:
Mendel chose garden pea (Pisum sativum) as the plant material for his experiments, since it has
the following advantages.
1. Convenience of handling:
Peas could be grown easily either in field or in pots and each plant occupies only a small
space.
2. Controlled mating:
The flower structure of pea ensures self pollination, which was experimentally verified by
Mendel.
Individual pea plants are highly inbred displaying little if any genetic variation from one
generation to the next.
However since the pea flowers are relatively large, emasculation and pollination is quite easy.
Therefore, crossing could be carried out easily.
3. Short life cycle:
Peas complete their life cycle from seed to seed within 70 days, thus producing many
generations in rapid succession.
4. Large number of fertile off-springs:
Hybrids resulted from crossing two pure strains (true breeding) were perfectly fertile and
more in number.
Pea seeds are large in size and do not have any problem in germination.
5. Presence of variation:
Peas have many sharply defined inherited differences like plant height (Tall vs. dwarf), seed
shape (round vs wrinkled) etc.
In the available varieties, several characters had two contrasting forms, which were easily
distinguishable from each other. This permitted an easy classification of F2 and F3 progeny
from various crosses into clear-cut classes.
Mendelism / Laws of Mendel:
Mendel’s cross breeding experiments with garden
peas showed certain numerical relations among the
progeny.
The relationship between the character pairs and
the kinds and the ratio of the progeny is known as
Mendelism.
Mendelism was not a theory of hereditary origin,
but it was a theory of the manner in which
inheritance had taken place.
Mendelism can be summarized in the following
laws which are called Mendel’s laws of inheritance.
Mendel’s Laws
1. Law of segregation
“The separation of paired gene (alleles) from one another and their
distribution to different sex cell”. During meiosis the members of each
pair of alleles separate into different sex cells or gametes. Thus they
occur in different offspring. Mendel called this separating or segregation
process the “splitting of hybrids”. Eg., monohybrid cross: A cross
between two parents differing for a single character.
Parents tall (F) dwarf (M)
Genotypes LELE X lele
Gametes LE le
Hybrid, F1 LEle (tall)
Selfing
Gametes of F1 LE and le
LE le
F2 LE LELE LEle Phenotypic ratio: 3 tall : 1 dwarf
Genotypic ratio: 1LELE: 2LEle: 1lele
le LEle Lele
The law of segregation can be explained more clearly by making
following suppositions.
A character is produced by a specific gene.
Each gene has two alternative forms (alleles).
The two alleles of a gene govern the development of
contrasting forms of the character governed by the gene.
Each somatic cell of an organism has two copies of each gene.
An individual may have two copies of the same allele, eg.,
LELE or lele, such individual is called homozygous and the
situation is referred as homozygosity. But when an individual
has two different alleles of a same gene, eg., LEle, it is referred
to as heterozygous and the condition is known as
heterozygosity.
Back cross (Cross of F1 with either of parents) of a monohybrid

Test cross (cross F1 individual with recessive individual) of a

Monohybrid
From: An Introduction to Genetic Analysis, Griffiths
 Law of independent assortment
“Members of different pairs of alleles assort independently
into gametes”. E.g., dihybrid cross: A cross between 2 parents
differing for two characters. The progeny from a cross between
two homozygous parents differing for two genes (or characters)
is known as dihybrid or an individual heterozygous for two
genes.
Eg., Seed shape: round, wrinkled; cotyledon colour: yellow,
green
Parents round, yellow (F) wrinkled, green
(M)
Genotypes RRII X rrii
Gametes RI ri

Hybrid, F1 RrIi (round, yellow)

Gametes of F1 RI, Ri, rI and ri

 RI Ri rI ri
F2 RI RRII RRIi RrII RrIi
Ri RRIi Rrii RrIi Rrii
rI RrII RrIi rrII rrIi
ri RrIi Rrii rrIi Rrii
Phenotypic ratio : 9 round yellow: 3 round green: 3 wrinkled yellow: 1
wrinkled green (Actual: 315:101:108:32=556)
Genotypic ratio : 1 RRII: 2 RrII: 2 RRIi: 4 RrIi: 2 Rrii: 2rrIi: 1 RRii: 1
rrII: 1 rrii
Genotypes in F2 : 3n
Phenotypes in F2 : 2n
Perfect population size : 4n
Frequency of homozygous : 2n
Frequency of heterozygous : 3n- 2n
Where, n means number of different gene pairs
Test cross (cross F1 individual with recessive individual) of a dihybrid
Back cross of a dihybrid
3. Law of Dominance:
It states that in a hybrid one factor of the allelo-
morphic pair expresses itself completely over the
other.

4. Law of unit characters:

It state that each factor (gene) controls the inheritance
of single character. These factors occur in pairs in
each diploid organism.
Some Problems:
1. How many different kinds of F1 gametes, F2 genotypes and F2
phenotypes would be expected from:
a) AA X aa, AABB X aabb, AABBCC X aabbcc.
b) What general formula can be applied for F1 gametes, F2
genotypes and F2 phenotypes?
2. If you had a fruit fly that was of phenotype A, what test
would you make to determine whether it was AA or Aa?
3. Two black pigs were mated and over several years produced
29 black and 9 white offspring. Explain these results giving
the genotypes of parents and progeny.
4. In tomatoes red fruit is dominant to yellow, two loculed fruit
is dominant to many loculed and tall vine is dominant to
dwarf. A breeder has two pure lines: red, two loculed, dwarf
and yellow, many loculed, tall. From these two lines, he
wants to produce a new pure line of yellow, two loculed and
tall. How exactly should he go about doing this? Show not
only which crosses to make, but also how many progeny
should be sampled in each case?
 Gene Actions
and
Gene Interactions
Gene Action
Gene action refers to the way in which certain
genes exert their effects on the body.
They could be dominant, or recessive, or they could
be sex-linked or be involved in chromosomal
aberrations.
A combination of such gene actions results in the
observable phenotype of an organism.
There are three broad types of gene actions:
1. Additive Gene Action
2. Dominance Gene Action
3. Epistasis Gene Action
Additive gene action (d)
The action of a gene is said to be additive when one
allele of a gene is substituted by another allele and it
produces the same effect, a positive effect or a
negative effect.
This can happen only if the alleles
are not dominant (or recessive).
In the table below, addition or
removal of A adds or subtracts
2 units of action, respectively,
and is not affected by the presence of gene B.
The same is true for gene B too.
Dominance gene action (h)
When a dominant gene (A) is substituted by a
recessive gene (a) and there is no effect, either
positive or negative, then it is called a dominance
gene action.
In the table below,
there is no effect when the
recessive gene in Aa is
replaced by a dominant gene.
In this model, AA exerts the
same effect as Aa.
It can be dealt into following headings.
1. Inter allelic or intra genic gene interaction
a. Incomplete or partial dominance:
The phenotypic expression of heterozygote for a gene being
intermediate those of the two concerned homozygotes.eg.,
Four o‟clock plant
aa AA

Aa Aa Aa

Incomplete complete over

dominance Dominance dominance
b. Co-dominance: Both the alleles of a gene express
themselves in the heterozygote. E.g., coat colour
in cattle, blood types in human.
Coat colour in cattle
Red X white
RR rr

F1 : Rr (Roan)

F2 : 1 RR: 2Rr : 1rr

Over dominance:
Heterosis in which heterozygote is more valuable
(superior) or the intensity of character expression is
greater than either homozygotes.
 E.g., sickle cell anemia in human, eye colour in
Drosophila.
Sickle cell anemia In human
Ss X Ss

1 SS: 2 Ss 1ss
• Ss is more resistant to Malaria than SS
Eg, Over dominance: Eg., Codominance: Eg., incomplete
Sickle cell anemia In Blood types in human dominance:
human 4 oclock plant
Ss X Ss AA X BB RR X rr
(Red) (white)

AB Rr
(Pink)

1 SS: 2 Ss 1ss
Ss is more resistant
to Malaria than SS 1AA : 2 AB : 1 BB 1 RR : 2Rr : 1rr
Epistasis gene action ( Gene Interaction)
In this type of gene action, the presence or absence
of an allele in one locus affect the expression of
another allele in a different locus.
Epistasis can either exert additive effect or
dominance.
In other words, epistasis action of one gene can
completely mask the effect of another gene, or it can
also function in completely unmasking the effect of
a gene that remains dormant by default.
Types:
1. Additive x Additive epistasis (i)
2. Dominance x Dominance epistasis (j)
3. Additive x Dominance epistasis(l)
Gene Interaction
The phenomenon of two or more genes governing the development of single
character, and of these genes affecting the expression of each other in
various ways is known as gene interaction. It is also known as non allelic or
inter genic gene interaction.
a. Novel phenotype (9:3:3:1)
There is complete dominance at both gene pairs. New phenotype results
from interaction between dominants and also from both homozygous
recessive. E.g. comb shape in poultry.
Parents: Pea X Rose
PPrr ppRR

F 1: PpRr (walnut)

Selfing

9 P-R-: walnut
3 P-rr: pea
F 2: 3ppR-: rose
1 pprr: single
b. Epistasis: Interaction between different genes (non alleles)
that is expression of one gene is affected by another gene and
vice versa. These are following types.
i. Complementary action (9:7): Two genes may be required to
produce the same effect. Eg., flower colour in sweet pea.
Parents: Purple X White
CCPP ccpp

F1: CcPp (purple)

Selfing

9 C-P-: purple
3 C-pp: white
F2: 3ccP-: white
1 ccpp: white
ii. Inhibiting action (13:3): One gene may act as an
inhibitor of the effect of another gene. Eg., aleurone
colour in maize, anthocyanine pigment in rice.
R: red colour, r: no colour,
I: does not produce any colour by itself. It only prevents the
colour production by R when both I and R are together.
Parents: Red X White
RRii rrII

F1: RrIi (white)

Selfing

9 R-I-: white
3 rrI-: white
F2 : 1 rrii: white
3 R-ii: red
iii. Duplicating action (15:1): Either of 2 genes may produce
a similar effect or the same effect is produced by both of
them together. Eg., seed capsules of Bursa.
Parents: Triangular X Ovoid
AABB aabb

F1: AaBb (triangular)

Selfing

9 A-B-: triangular
3 A-bb: triangular
F2: 3 aaB-: triangular
1 aabb: ovoid
iv. Modifying action (9:3:4): One gene has no visible
effect unless a second gene is present at another locus.
Eg., grain colour in maize.
Parents: Purple X White
PPRR pprr

F1: PpRr (purple)

Selfing
9 P-R-: purple
3 ppR-: red
F2: 3 P-rr: white
1 pprr: white
 v. Additive/polymeric action (9:6:1): Two genes may produce the
same effect, but the effects are additive if both genes are present.
Eg., fruit shape in summer squash.
Parents: Spherical shape X Spherical shape
AAbb aaBB

F1: AaBb (Disc)

Selfing

9 A-B-: Disc
3 A-bb: Spherical
F2: 3 aaB-: Spherical
1 aabb: long
•
vi. Masking action (12:3:1): One gene may hide the effect of
a second gene when both are present. Eg., Fruit color in
summer squash.
Parents: White X Yellow
WWgg wwGG

F1: WwGg(White)
Selfing

9 W-G-: White
3 W-gg: White
F2: 3 wwG-: yellow
1 wwgg: Green
Pleiotrophic effects of genes:
 Pleiotropy is the phenomenon of a single gene affecting more
than one character.
 Pleiotropic genes are: sickle cell anemia (s), white eye gene in
Drosophila (w)
 Pleiotropic gene action may be classified as:
a. Lethal gene action: causes death of all individuals, if the gene
appears at appropriate genotype. It is of following types.
i. Dominant lethals: eg., epiloia gene in human. It causes
abnormal skin growth, severe mental defects and multiple
tumors causing death.
Aa X Aa

1 AA: 2Aa : 1aa

Aa and aa are normal; AA dies.
ii. Recessive lethals: eg., sickle cell anemia (see over
dominance).
iii. Conditional lethal
b. Semi or sub lethal gene action: Only less than
50% individuals survive. Eg., Xantha mutants
c. Vital gene action:
Do not affect the survival of the individuals.
Neither enhances nor reduces the viability.
d. Sub vital gene action:
Reduce viability.
Kill less than 50% individuals. Eg., mutant
genes.
e. Super vital gene action
Enhance the survival of the individuals. Eg.,
genes for disease resistance, insect resistance
and other pest resistance.
Penetrance: The ability of a gene to express itself
in the individuals carrying it in the appropriate
genotype.
Complete penetrance: expresses itself in every
individual.
Incomplete penetrance: fail to express in some of the
individuals.
Expressivity: The ability of a gene to express itself
uniformly in all the individuals that carries it in the
appropriate genotype.
Variable expressivity: unable to express itself uniformly
in all the individuals.
Uniform expressivity: able to express itself uniformly in
all the individuals.
PROBABILITY
&
CHI SQUARE
TESTING
Probability
The concept of probability is basic to many principles
of genetics.
E.g., segregation, independent assortment, etc.
 The principles of population genetics are based on the
consideration of laws of probability.
Probability means the chance or likelihood of the
occurrence of an event.
EXPERIMENT AND OUTCOMES
 Any operation on certain object or objects which gives
different result is known as an experiment.
 And, the different possible results are known as
outcomes.
 Crossing two true breeding lines of pea followed by
selfing is an experiment and segregating progeny
populations are its outcomes.
When an experiment is conducted repeatedly under
essentially homogeneous conditions, the results is not
unique but may yield any one of the various possible
outcomes, it is a random experiment or trial.
An experiment is a process whose outcomes cannot be
predicted with certainty.
EVENTS or CASES
One outcome or a group of outcomes associated with
certain condition is known as an event.
The occurrence of a single event is known as simple
event.
Event is called simple if it corresponds to a single
possible outcome of the experiment or trial.
When two or more of these events occur in connection
with each other, the joint occurrence is called
compound event or composite event.
Experiment 1: Tall pea plant and Dwarf pea plant ,
Experiment 2: Plant with wrinkle seed shape and
plant with round seed shape
Experiment 3: Tall plant with smooth pod shape and
dwarf plant with inflated pod shape
Crossing two true breeding lines, growing F1 seed
and selfing to produce F2 progeny.
 If a tall plant is selected and then round shape seed
is selected, each of these events viz; selecting a tall
plant or a plant with round shape seed, will be
called a simple event and the event of joint
occurrence of both i.e. selecting a tall plant with
round shape seed, will be called a composite event.
Two or more events are said to be independent if
the happening of any one of them is not affected by
other and also doesn‟t affect the happening of any
one of others.
Two or more events are dependent if happening of
any one of them is affected by others.
E.g., in Mendelian experiments, the event of getting
a tall plant in first experiment is independent to
getting a round shape seed in second experiment.
The event of getting a tall pea plant and a round
shape seed is dependent event.
If the occurrence of any one of the event excludes the
occurrence of other (all others) in the same experiment,
they are called mutually exclusive events.
When the happening of any one of the events is
incompatible with occurrence of any of the others, they
are mutually exclusive events.
 E. g. in above experiments, A tall plants and dwarf
plants are mutually exclusive events or disjoint events
because if tall plant phenotype expressed it excludes the
expression of dwarf phenotype and vice-versa.
If the chance of occurrence of all the events in an
experiment is same/ equal, the events are called equally
likely events.
If none of the events is expected to occur more in
preference to other, they are equally likely events.
E. g. allelic distribution of genes in gamete.
Total number of all possible equally likely events or
outcomes of a random experiment or trial is
exhaustive event/ cases or sample space.
E. g. In experiment 3, possible gamete production
are DS, Ds, dS and ds.
PROBABILITY
Classical definition of probability
 This approach of probability was introduced by J. Bernoulli which
states that, “ if a random experiments results „n‟ mutually exclusive,
exhaustive and equally likely outcomes or cases out of which „m‟
(m≤ n) cases are favorable to the happening of an event E (say), then
the probability of happening of event E, denoted by „P(E)‟ is given
by
Favourable number of events/outcomes/cases to E
P(E) = -------------------------------------------------------------------
Exhaustive or total number of events/ outcomes/ cases.
P(E) = m/n
 Thus, the probability of occurrence of an event is the ratio of the
number of favourable cases to the total number of possible or
exhaustive cases.
 If an event can happen in a „a‟ ways and fails to happen in „b‟ ways,
where each of these ways is equally likely, the probability or chance
of its happening is a/(a + b) and that of its failing is b/(a + b).
 This is also known as Laplace’s 1st Principle.
Theorem of addition of probability (Laplace’s 2nd
Principle)
This principle is for the mutually exclusive events
with the following statement;
If an event can happen in two or more different ways
which are mutually exclusive, the chance that it will
happen is the sum of the chances of its happening in
these different ways.
Suppose, E is an event which includes the
happening of any one of the „n‟ mutually exclusive
events E1, E2, E3, . . En such that E = [E1 or E2 or
E3 or . . or En]
Then, P(E) = P(E1) + P(E2) + P(E3) + . . + P(En)
Question. What is the chance of throwing a number
greater than 4 in a single throw with one die?
Answer:
Here, event E: x> 4
This event includes happening of events- E1: x = 5;
or E2: x= 6.
In a die, P(E1) = 1/6 and P(E2) = 1/6.
Therefore, chance of getting number more than 4 in
throwing a die,
P(E) = P(E1) + P(E2) = 1/6 + 1/6 =1/3
Theorem of multiplication of probabilities (Laplace’s 3rd Principle)
This principle is for the simultaneously occurring
independent events.
The probability of occurrence of several
independent events is the product of their separate
probabilities.
Suppose, E is an event which is the joint occurrence
of n independent events E1, E2, E3. . . . . .En such
that , E = E1 and E2 and E3 and . . . . . and En.
Then,
P(E) = P(E1) . P(E2) . P(E3) . . . . . . . P(En).
Question: find the chances of the following events in a single
throw with two dice D1 and D2. (i) Ace in both dice? (ii) Ace in
D1 and no-ace in D2? (iii) One ace only? (iv) At least one ace?
The chance of throwing an ace in any die is 1/6 and that of no-ace is
5/6.
(i) Chance of getting ace in both dice
= P (ace in D1). P (ace in D2) = 1/6 . 1/6 = 1/36
(ii) Chance of getting ace in 1st and no-ace in 2nd dice
= P (ace in D1). P (no-ace in D2) = 1/6. 5/6 =5/36
(iii) Chance of getting one ace only
= P (ace in D1). P (no-ace in D2) or P (no-ace in D1). P(ace in D2)
= 1/6 .5/6 + 5/6 .1/6= 5/36 + 5/36 = 10/36 =5/18
(iv) Chance of getting at least one ace
= P (ace in D1). P (ace in D2) or P (ace in D1). P (no-ace in D2) or P (no-ace in D1). P (ace in D2)

= 1/6 .1/6 +1/6 .5/6 + 5/6 .1/6 = 1/36 +5/36 + 5/36 = 11/36
Dependent events and conditional probabilities
The probability that an event will happen if another
has occurred or has been specified to occur
simultaneously as a condition for the successful
occurrence of the given event is known as
conditional probability.
Suppose, A and B are two events such that B
happens when A has already happened.
 In such a case, the probability of B is called
conditional probability of happening of B , on the
assumption that A has already happened, and is
denoted by P(B/A). (Probability of B given A)
Question: The letters of the word PEPPER are written
on cards. These are thoroughly mixed and four
drawn in order. What is the chance that the result is
PEEP?
Here, there are 6 letters in which 3 are P‟s, 2 are E‟s and 1
is R. Therefore, chance of drawing P for 1st time is P(P)
= 3/6 =1/2
Now, when P has been drawn, there are only 5 letters left.
The chance of drawing E in 2nd draw, P already drawn
is P(E/P) = 2/5.
Similarly, P(E/PE) = ¼
And P(P/PEE) =2/3
Hence, chance of getting PEEP is P(PEEP) = P(P). P(E/P).
P(E/PE). P(P/PEE)
= ½. 2/5. ¼ . 2/3
= 1/30
PERMUTATION
The permutation of the letters A, B and C taken all
at a times are ABC, ACB, BCA, BAC, CBA and
CAB and they are 6 in number.
Also, the permutation of the letters A, B and C taken
two at a times are AB, AC, BA, BC, CA and CB and
these are also 6 in number.
Each arrangement of a given things: that can be
made taken (i) all at a time, or
(ii) some of them at a time,
is known as permutation.
Question: how many words can be formed with the
help of letters of the words WHEAT?

Answer: words are formed by arranging the different

letters.
Here, total number of letters is 5 i.e. n=5.
Hence, possible number of words of 5 letters = n!
= 5!
=5x4x3x2x1
= 120
Combination:
The combination of the letters A, B and C taken two
at a time are AB, AC and BC.
These are 3 in number.
In forming combination, we are concerned with the
number of things each group contains but in
permutation, we consider different arrangements of
the things also.
E.g. letters of A and B form a combination of AB
whereas AB and BA are its two permutations.
Each of the groups or selections which can be made
by taking at a time (i) all. (ii) some of a number of
things, is known as a combination.
Question: In how many ways can 4 cards be selected from
52 playing cards?
Answer: according to question, different combination
of 4 cards from 52 cards is given by method of
combination where n = 52 and r = 4.
Hence, number of ways to select 4 cards among 52
= =
= n!/ { r! (n - r)!} = 52! / 4! (52 – 4)!
= 52.51.50.49. 48! / 4. 3. 2. 1 . 48!
= 270725
Question: How many different words can be made
out of the letters of word STATISTICS, taken all
together?
Answer:
The process of forming a word is arrangement of
letters but not just grouping so we should go for
permutation.
Here, there are 10 letters of which 3 are S‟s, 3 are T‟s,
2 are I‟s and A and C are one each.
Hence,
The number of different words = 10! / 3! 3! 2! 1! 1!
= 50400
The ability to taste the chemical phenylthiocarbamide is an autosomal
dominant phenotype and the inability to taste it is recessive. If a taster
woman with a non taster father marries a taster man who in a previous
marries, had a non taster daughter, what is the P that their first child
will be (i) a non taster girl (ii) a taster girl (iii) a taster boy. Also, what
is the P that their first two children will be tasters of any sex?
Answer: Let us consider
T for dominant allele that have ability to taste the chemical
phenylthiocarbamide and t being its recessive counterpart.
then, genotype T_ will taster phenotype with ¾ probability and
genotype tt being non-taster with ¼ probability
 Taster women (T_) with non-taster father (tt) must have Tt genotype.
 Taster man (T_) with non-taster daughter (tt) must have Tt genotype.
Hence, mating between them will produce following
kinds of individual:
Tt x Tt XX x XY

1TT : 2Tt : 1tt XX : XY

3 Taster : 1 non-Taster Female : Male
These two events are independent events.
i) P (non taster girl i.e. tt and XX) = ¼ x ½ =1/8
ii) P (taster girl i.e. T_ and XX) = ¾ x ½ = 3/8
iii) P (taster boy i.e. T_ and XY) = ¾ x ½ = 3/8
iv) P (two children will be tasters of any sex i.e. T_ and T_) = ¾ x ¾ =9/16
Probability Distribution:
The concept of probability distribution is analogous to
that of frequency distribution.
A theoretical probability distribution is a systematic
arrangement of probability value associated with
mutually exclusive and exhaustive outcomes in an
experiment whereas frequency distribution is a
listing of the observed frequencies of all the
outcomes of an experiment.
The main objective of theoretical distribution is to
provide a logical basis for decision making and
prediction of limiting information of theoretical
consideration.
As the random variable can take discrete and
continuous value likewise the probability
distributions are also categorized accordingly viz;
discrete probability distribution and continuous
probability distribution.
Binomial and Poisson distributions are the
important discrete probability distribution and the
Normal distribution is the continuous probability
distribution.
BINOMIAL DISTRIBUTION
This is the basic and the most common discrete
probability distribution.
 It is named after the name of its profounder James
Bernoulli (1654-1705).
The binomial distribution is given by the probability
mass function.
for all possible values of x.
n = number of trials.
x = number of success in a trial.
n-x = number of failure in a trial
p = probability of success.
q = probability of failure.
= the possible number of ways in which x success
can occur.
Question : Maize plant population of size 40000 consists
of 30000 tall and 10000 dwarf plants. For a sample size
of 10 plants, calculate the probabilities i) exactly 2
plants will be dwarf, and ii) at least two plants will be
dwarf.
Answer:
Let, x denotes dwarf plants and p represent the proportion
of dwarf plants.
Therefore,
p = dwarf plants in population/ total plant population
= 10000/40000
=¼
And
q = 1-p
= 1-¼
= ¾.
Binomial expansion
The set of terms, along with their coefficients,
obtained by expanding the general binomial (a+b)n
is known as binomial expansion.
It is applicable to any those events in which the
number of mutually exclusive events is two.
Simplification of (a+b)n in this manner yields the
following expansion.
(a+b)n = a n + a n-1b + a n-2b2 + …………………+ b n
Steps
Determination of various terms of the expansion
Determination of coefficients of these terms
How to find out the coefficients of the terms?
Coef. of next term = (coef. of preceding term X
exponent of preceding term) / ordinal number of
preceding term.
Equation: (a + b)4 = a4 + 4a3b + 6a2b2 + 4ab3 + b4
E.g. coef. of second term =1 x 4 / 1 = 4. and,
the coef. of third term = 4 x 3 / 2 = 6
 Example: if 5 coins are tossed together, determine the P
of getting 3H and 2T.
 Here, (a + b )5 = a5 + 5a4b + 10a3b2 + 10a2b3 + 5ab4 +
b4
 Let a represents head and b represents tail.
 Then P of 3H and 2T is 10a3b2 equals 5/16.
In this example find the probability of getting:
i) at least 3H ii) more than 3H iii) less than 3H iv)
not more than 3H
Probability of a combination of two independent
events:
Formula: P = (n  / s  t ) x ps qt where,
P = probability of a combination of independent events
n = total number of independent events.
s = number of one of the two mutually exclusive events in
the combination.
t = number of other mutually exclusive events in the
combination.
p = probability of the first of the two mutually exclusive
events.
q = probability of the other mutually exclusive events.
 = factorial.
NORMAL DISTRIBUTION
This was first propounded by English mathematician
De-Moivre (1667- 1754) in 1733 while dealing with
problem arising in the game of chance.
Definition
If X is a continuous random variable ranging between
-∞ to+∞ and follows normal distribution with mean
µ and standard deviation σ.
Then, the probability density function of X is given
by:
; - ∞ to + ∞
Where, x = value of continuous random variable
µ = mean of normal distribution
σ = standard deviation of normal distribution
π = 22/7
e = base of natural logarithm = 2.7183
The mean µ and standard deviation σ are called
parameters of the normal distribution.
Symbolically, X follows normal variable with mean
µ and variance σ2 is written as
X ~ N (µ, σ2).
The graph of normal curve is symmetrical bell
shaped that extends indefinitely in both directions
approaching closer to the horizontal axis without
touching it, as shown below:
Standard Normal Distribution
A normal curve with mean µ and standard deviation
σ can be converted into a standard normal
distribution by performing the change of the scale
and origin by the variable:
Z = (x - µ) /σ
where,
Z = standard normal variate corresponding to x
And its distribution is:
P (Z) = 1/ 2π * e -½ Z ^ 2 ; - ∞ ˂ Z˂ + ∞
The standard normal distribution has zero mean and
unit standard deviation is denoted by N (0, 1).
This process is called Z-transformation.
CHI-SQUARE TEST
In probability theory and statistics, the chi-squared
distribution (also chi-square or χ2-distribution)
with k degrees of freedom is the distribution of a
sum of the squares of k independent standard
normal random variables.
The chi-square distribution is a special case of
the gamma distribution and is one of the most widely
used probability distributions in inferential
statistics, e. g., in hypothesis testing or in
construction of confidence intervals.
The chi-squared distribution is used in
 the common chi-squared tests for goodness of
fit of an observed distribution to a theoretical
one,
 the independence of two criteria of classification
of qualitative data, and
 confidence interval estimation for a
population standard deviation of a normal
distribution from a sample standard deviation.
Where,
2= Pearson's cumulative test statistic, which
asymptotically approaches a 2 distribution.
Oi= the number of observations of type i.
Ei = Npi = the expected (theoretical) frequency of
type i, asserted by the null hypothesis that the fraction
of type i in the population is pi
n = the number of cells in the table.

The chi-squared distribution is used primarily in

hypothesis testing.
When our interest is to test whether a set of observed
values are in agreement with those which would occur
if some specified hypothesis were true.
The χ2 statistic provides a measure of agreement
between such observed and expected frequencies.
The χ2 distribution has a number of applications in
testing of hypotheses. It is used to test,
The independence of attributes,
The goodness of fit,
The homogeneity of variances,
The homogeneity of correlation coefficients, and
The linkage of genetic problems.
Chi square ( 2) test :
Chi square is a statistical test for determining
whether observed data agree with an expected ratio
or not.
2 =  (O-E)2 / E, where ( 2) = chi square,
O = observed frequency, E = expected frequency
and  is the summation.
The requirements of ( 2) test:
Enumeration data,
Expected ratio:
monohybrid (F2 phenotype) 3:1 and monohybrid test
cross 1 : 1
dihybrid (F2 phenotype) 9 : 3 : 3:1 and dihybrid test cross
1:1:1:1
Number of observations:
Larger the total number of observations, greater the
reliability of the conclusions from a chi square test
Each class of data should have 50 or more than 50
observations, (exception for some scientists; 5 or more
than 5 observations should be needed for each class)
If there is only two classes, and having less than 50
observations/class, Yates correction is applied to increase
the precision of chi square test.
Actual data:
original data should be used, not to the ratios or percent
frequencies computed from them.
Procedure for ( 2) test:
 Formulation of a null hypothesis
 Example, phenotypic ratio of F2:
 monohybrid: 3:1, dihybrid: 9:3:3:1.
 Test crossed progeny ratio:
 Monohybrid: 1 : 1, di-hybrid: 1 : 1 : 1 : 1 ,
Tri-hybrid: 1 : 1 : 1 : 1 : 1 : 1 : 1 : 1
Computation of ( 2) from observed data
Determination of appropriate table value of ( 2).
 The value of ( 2) depends on two variables: degrees of
freedom (df) and probability.
df = k = n – 1, where df = degrees of freedom and
n = number of classes in the data.
P = 0.05 is accepted as the standard
probability level for decision making.
STEPS IN TESTING OF HYPOTHESIS
1. Formulation of null and alternate hypothesis,
2. Speciation of level of significance,
3. Selection of test statistics and its computation,
4. Speciation of critical value from tables using the
level of significance, sampling distribution and its
degree of freedom,
5. Determination of the significance of the test
statistic,
6. Decision about null hypothesis based on the
significance of the test statistic,
7. Drawing the conclusion that answers the question
on hand.
Chi square Table
df (k) Probability (P)
0.1(10%) 0.05(5%) 0.01(1%)
1 2.71 3.84 6.63
2 4.61 5.99 9.21
3 6.25 7.81 11.34
4 7.78 9.49 13.28
5 9.24 11.07 15.09
10 15.99 18.31 23.21
Drawing of conclusions.
If calculated value of ( 2) is less than tabulated
value at 0.05 P against the appropriate d.f., null
hypothesis will be accepted and it is concluded that
the observed data are in accordance with the
expected ratio.
But if, the calculated value of ( 2) is more than
tabulated value at 0.05 P against the appropriate d.f.,
null hypothesis will be rejected and it is concluded
that the observed data are not in accordance with the
expected ratio.
Question: A heterozygous plant for two genes is self fertilized and in F 2, the following seeds are
observed.
round yellow: 315, round green: 108,
wrinkled yellow: 101, wrinkled green: 32
Answer:
 Null Hypothesis (Ho): The shapes and colors of seeds produced from F1 plants (F2
generation) follows normal Mendelian inheritance i.e., 9:3:3:1
 Alternate Hypothesis (H1): The shapes and colors of seeds produced from F1 plants (F2
generation) doesn't follow normal Mendelian inheritance i.e., 9:3:3:1
 Level of Significance (α) = 0.05
 Preferred test statistics is Chi-square test and its computation is as follows:
Number of seeds in F2 generation
Description RY Ry rY ry total
O 315 108 101 32 556
E 312.75 104.25 104.25 34.75 556
(O-E) 2.25 3.75 -3.25 -2.75 0
(O-E)2 5.06 14.06 10.57 7.46
(O-E) 2 / E 0.016 0.135 0.101 0.215
(χ2 ) =  (O-E)2 / E = 0.467
 Critical χ2 value for 3 df and α =0.05 is 7.8
 Calculated χ2 is less than critical (tabulated) χ2 i.e., χ2 cal is non-significant (ns).
 We fail to reject null hypothesis.
 Thus, the shapes and colours of seeds produced from F1 plant (i.e., F2 generation) follows
normal Mendelian inheritance.
Two plants for one trait are crossed and the F1 is produced. The F1 is self fertilized and
F2 is obtained. The data of F2 is given below.
Round: 165, wrinkled: 35
 Null Hypothesis (Ho): The shapes of seeds produced from F1 plants (F2 generation)
follows normal Mendelian inheritance i.e., 3:1
 Alternate Hypothesis (H1): The shapes of seeds produced from F1 plants (F2
generation) doesn‟t follow normal Mendelian inheritance i.e., 3:1
 Level of Significance (α) = 0.05
 Preferred test statistics is Chi-square test and its computation is as follows:
Number of seeds in F2 generation
Description Round wrinkled total
O 165 35 200
E 150 50 200
O-E 15 – 15 0
Corrected Deviation 15 – 0.5 (– 15 – 0.5)
Corrected (O-E) 2 / E 1.41 4.205
χ2 =  (O-E)2 / E = 5.621
 Critical χ2 value for 3 df and α =0.05 is 3.84
 Calculated χ2 is more than critical (tabulated) χ2 i.e., χ2 cal is significant (*).
 We reject null hypothesis.
 Thus, the shapes of seeds produced from F1 plant (i.e., F2 generation) doesn't follow
normal Mendelian inheritance.
 Linkage
and
Crossing Over
Linkage and Crossing Over
A. Linkage
In 1910, Morgan gave the concept of linkage.
Genes are arranged in a linear fashion in the chromosome.
Genes located in the same chromosome tend to stay together
during inheritance.
The intensity of linkage between two genes is inversely related
to the distance between them in the chromosome.
Linkage is the consequence of the concerned genes being
located in the same chromosome.
Linked genes do not show independent segregation, as a
consequence, the ratios obtained in F2 and test cross generations
are significantly different from the expected ratios of 9:3:3:1 and
1:1:1:1, respectively (in case of 2 linked genes).
The tendency of two or more genes to stay together during
inheritance is known as linkage.
Types of linkage
Depending upon the absence or presence of recombinant
phenotypes in the test cross progeny
1. Complete linkage: Absence of recombinant phenotypes due
to the absence of crossing over. Eg., complete linkage in the
Drosophila male.
2. Incomplete linkage: Presence of recombinants phenotypes in
test cross progeny.

Depending on whether all dominant or some dominant and

some recessive genes linked together
1. Coupling phase of linkage: Dominant alleles of the linked
genes are present in the same chromosome. Eg., coloured
full/colour less shrunken genes in maize.
2. Repulsion phase of linkage: Dominant alleles of some genes
and recessive alleles of other genes are present in the same
chromosome.eg., coloured shrunken/colour less full genes in
maize.
 A B A b

a b a B

Coupling phase Repulsion phase

Fig. 6. Coupling and repulsion phases of linkage.

Example 1. coloured full /colour less shrunken genes in maize.
Colour = C, colour less = c, full = F and shrunken = f

Parents coloured full X colour less shrunken

Genotypes CCFF ccff
Gametes CF cf

F1 coloured full (CcFf)

Test cross parents coloured full (F1) X colour less shrunken (tester)
Genotypes (CcFf) (ccff)
Gametes CF, Cf, cF, cf X cf

Test crossed Progeny

Coloured full (CcFf) 48.2 % ……………...parental type
Coloured shrunken (Ccff) 1.7% …………recombinant type
Colour less full (ccFf) 1.8% ……… ...recombinant type
Colour less shrunken (ccff) 48.3% ………… ….parental type
Example 2. coloured shrunken/colourless full genes in maize.

Parents coloured shrunken X colour less full

Genotypes CCff ccFF
Gametes Cf cF

F1 coloured full (CcFf)

Test cross parents coloured full (F1) X colourless shrunken (tester)

Genotypes (CcFf) (ccff)
Gametes CF, Cf, cF, cf X cf

Test crossed Progeny

Coloured shrunken (Ccff) 48 % ……………… parental type
Coloured full (CcFf) 1.4% …………… recombinant type
Colour less shrunken (ccff) 1.5% ……… recombinant type
Colour less full (ccFf) 49.1% ……………… parental type
Crossing over
 Exchange of strictly homologous segments between non sister chromatids of
homologous chromosomes.
 Crossing over takes place during pachytene.
 Only two of the four chromatids are cross over while the other two preserve their
original constitution.
 Crossing over occurs between the non sister chromatids of the homologous pair of
chromosomes.
 A cross (X) like figure at the point of exchange of the chromatid segments is called
as chiasma.
 The number of chiasma per set of chromosomes depend upon the length of the
chromosomes, the longer are the chromosomes, the greater the number of chiasmata.
 Chances of crossing over is more when the genes are located farther apart. The more
the distance between genes, the greater the opportunity for chiasma formation.
 Crossing over produces recombinant chromatids known as cross over chromatids
and original chromatids are referred as non cross over chromatids.
 The cross over chromatids have new combinations of the linked genes, while the
non cross over chromatids contain the parental gene combinations.
number of recombinant progeny from a test cross
 Frequency of Crossing over (%) = ----------------------------------------------------X 100
total number of Progeny
Recombination:
Production of new combinations of genes as a result of
independent segregation of non alleles or cross over between
linked genes; usually the latter. It is of two types:
I. Inter chromosomal:
Genes are present in different chromosomes and
recombination occurs.
A B Parental type: ¼ AB and ¼ ab
a b Recombinant type: ¼ Ab and ¼ aB
(Inter chromosomal crossing over)

I. Intra chromosomal:
Genes are present in the same chromosome and
recombination occurs.
A B Parental type: AB and ab: more than 50%.
a b Recombinant type: Ab and aB: less than 50%.
(Intra chromosomal crossing over)
Coefficient of coincidence (CC)
Double crossovers are produced by two simultaneous crossing overs one each
on the either side of the gene located between two genes.
If the occurrence of crossing over in the two regions are independent of each
other, the frequency of double crossovers will be the product of the frequencies
of crossing overs in the two regions.
The independence of crossing over in the two regions means that the
occurrence of crossing over in one region does not affect the chance of crossing
over in the another region.
The estimate of CC indicates the degree of agreement between the observed
and the expected frequencies of the double crossovers.
CC = Means the ratio between the observed and the expected frequencies of
double crossovers.
observed frequency of double crossovers
CC (%) = -------------------------------------------------------------------- X 100
expected frequency of double cross overs

The CC would be lower when the concerned genes are located close to each
other than when they are located farther apart.
Interference
 It is the phenomenon in which a single cross over at one locus
prevents the cross over to another locus.
 The tendency of one cross over to interfere the another cross
over is known as interference (I).
I = 1 – coefficient of coincidence (CC).
 Generally interference is a positive value. But in some
prokaryotes, negative interference has been observed.
 Negative interference means that the occurrence of a crossing
over promotes (rather than reduces) the chances of occurrence
of another crossing over in its neighbouring regions.
 It may be expected that the intensity of interference would
progressively decreases as the point of second crossing over
becomes farther from that of the first one.
 Therefore the CC would be lower when the concerned genes
are located close to each other than when they are located
farther apart.
Linkage Map
 All the genes that are linked together form a linkage group.
 Genes of a given species listed in linear order to show their relative positions
on the chromosomes is called as linkage/genetic/chromosome map.
 In preparing a chromosome map, the following two information are
essential:
 The frequency of recombination between the linked genes, and
 The order or sequence of these genes in the chromosomes
 Recombination frequencies between linked genes are determined from
appropriate test crosses.
Map Unit:
A map unit is that distance in the chromosome which permits one percent
recombination between two linked genes.
One percent of crossing over represents one unit on a linear map.
A map unit is also called centimorgan (cM). The unit is expressed in cM or
mu.
The number of different linkage groups in a species is, as a rule, equal to its
gametic chromosome number (n).
For e.g., the number of linkage groups in Drosophila is 4, in barley it is 7, in
maize it is 10 and in human it is 23.
Three point cross
 A cross in which three genes participate is known as three
point cross and a test cross involving one parent with three
heterozygous gene pairs is known as three point test cross.
 So, cross between a tri-hybrid and a triple recessive
homozygous individual is called three point test cross.
 In this test cross, the parental types are expected to be more
frequent and the double crossovers to be the least.
 The gene order is determined by manipulating the parental
combinations into the proper order for the production of
double crossover types.
Two point cross
 It is a cross in which two genes participate.
 So, a cross between a di-hybrid (individual heterozygous for
two genes) and a double recessive homozygous individual is
known as two point test cross.
Question 1:
Female Drosophila heterozygous for ebony, scarlet and spineless
were test crossed and the following progeny were observed.
Wild types 75, ebony 8, ebony scarlet 60, ebony spineless 347,
ebony scarlet spineless 65, scarlet 368, scarlet spineless 10, and
spineless 68.
a. Are these genes linked?
b. Write the genes in correct order on the chromosome. Draw
the linkage map showing map distance.
c. What are double cross over, non-cross over and single cross
over types?
d. Write genotypes of flies involved in the parental and test
crosses.
e. Diagram the cross showing the arrangements of genetic
markers on the chromosomes.
f. Calculate I and CC and interpret the results.
Let, e is allele for ebony and its counterparts wild type by +.
sc is allele for scarlet and its counterparts wild type by +.
sp is allele for spineless and its counterparts wild type by +.

Then, +++ = 75 (Wild types) ………….Single cross over type I

e++= 8 (ebony) ………….Double cross over type
+scsp=10 (scarlet spineless) …..Double cross over type
e+sp=347 (ebony spineless) ………..Parental Type
escsp=65 (ebony scarlet spineless)Single cross over type I
+sc+=368 (scarlet) ……………………...Parental Type
esc+=60 (ebony scarl…………..Single cross over type II
++sp=68 (spineless) ………......Single cross over type II
a. Result of test cross should be in 1:1:1:1:1:1:1:1 ratio for three point test
cross if those three genes are not linked. Deviation of progeny ratio from
1:1:1:1:1:1:1:1 signifies presence of linkage. Therefore, these genes are
linked.
b. Relative order of genes in the chromosome may be deduced based on the
consequences of double crossover. Double crossover has effect of changing
the associations of the members of the middle allelic pair.
(Therefore, in the case of unknown gene order, if we note from the 3-point test
cross data which allelic pair is transposed to make double crossover from
parental type chromosomes, that allelic pair must be situated in between other
two.)
Establish parental and double cross over types.
parental types : e+sp=347 and Double cross over types : e++= 8
+sc+=368 +scsp=10
We can see that if sp and + are transposed, double crossover can be obtained
from the parental types. Therefore, the linear order must be such that sp is
between e and sc. The gene arrangement for the heterozygote is:
e sp +
esp+ / ++sc (for parental type.)

+ + sc
The computation of map distance is as follows:
i. Recombination frequency of SC I(Linkage value of Region I)
i.e., Map distance between e and sp = {( 60+68+10+8)/1001} x 100
=14.59 %
The distance between e and sp is 14.59 map units (mu) or
centimorghan (cM).
ii. Recombination frequency of SC I(Linkage value of Region I)
i.e., Map distance between sp and sc= {( 65+75+10+8)/1001} x 100
=15.78 %
The distance between sp and sc is 14.59 map units (mu) or
centimorghan (cM).
14.59 mu 15.78 mu
e sp +

+ + sc
30.37 mu
c. Double cross over, non-cross over and single cross over types are as follows:
e++= 8 (ebony) ………………………….Double cross over type
+spsc=10 (scarlet spineless) ………………..Double cross over type
++sc=368 (scarlet) ……………………………...Non crossover Type
esp+=347 (ebony spineless) ………………...……Non crossover Type
e+sc=60 (ebony scarlet) ……………………..Single cross over type I
+sp+=68 (spineless) ………………………......Single cross over type I
+++ = 75 (Wild types) ……………………….Single cross over type II
espsc=65 (ebony scarlet spineless)……….Single cross over type II

d. Genotypes of flies in parental cross are:

++sc/++sc (scarlet) and esp+ / esp+ (ebony spineless)
And, Genotypes of flies in test cross are:
++sc/ esp+ (Wild Types) and espsc / espsc (ebony scarlet spineless)
e. Diagram of cross showing the arrangements of
genetic markers on the Chromosomes is:
Parents: Parent 1 Parent 2
Phenotype: scarlet ebony spineless
Genotypes ++sc/++sc esp+ / esp+
Gamets: ++sc esp+
F1: Phenotype Wild Type
Genotype: ++sc/ esp+
gametes:
+++ ++sc +sp+ +spsc

e++ e+sc esp+ espsc

Test Cross:
Parents: F1 Recessive Parent
Phenotype: Wild Types Ebony Spineless Scarlet
Genotype: ++sc/esp+ espsc/espsc

Test cross Progenies:

Genotypes Phenotype
++sc/espsc Scarlet
esp+/espsc ebony spineless
e++ /espsc ebony
+spsc/espsc spineless scarlet
e+sc/espsc ebony scarlet
+sp+/espsc spineless
+++/espsc Wild types
espsc/espsc ebony spineless scarlet
f. Observed D. C.O. frequency= (Total # of D. C.O./Total # of Progeny)
=(18/1001)
=0.01798
expected D. C. O. frequency = product of two single cross over frequencies
= 0.1459 *0.1578
=0.023

Observed D. C. O. frequency
Coefficient of coincidence(CC) = ---------------------------------------------------
Expected D. C. O. frequency

= 0.01798 / 0.023
=0.78
This means that only 78% of the expected double cross over occurred actually.
Interference =1-CC
=1-0.78
=0.22
This means that occurrence of cross over in one region interfere or prevent
formation of another cross over close to it to make double crossover by 22%.
There is occurrence of 22% less actual Double cross over than expected double
cross over.