Paper Code BT 203 : Genetics

UNIT-1
MENDELS LAWS OF INHERITANCE:-
LAW OF SEGREGATION OR LAW OF PURITY OF GAMETES

It states that in the heterozygous condition, a dominant and a recessive

gene remain together throughout the life without contaminating and mixing together,
eventually it separates or segregates from each other ,each gamete receives single gene
or allele , either dominant or recessive gene.

LAW OF INDEPENDENT ASSORTMENT: OR LAW OF RECOMBINATION OF

GENES:
This law states that, when the gametes is formed the members of
different pair of alleles(gene) segregate quite independently of each other and that all of
possible combination of genes concern will be among the progeny.

LAW OF SEGREGATION :-
EXAMPLE:-
MONOHYBRID CROSS:
DEFINITION:-
A hybridization cross between the pure breed of homozygous tall
and pure breed of homozygous dwarf plants differing in a single pair of phenotypic traits
is called monohybrid cross.

EXPERIMENT:-
EXPLANATION:-
MENDEL crossed a homozygous tall plant with a homozygous
dwarf plant.The F1 heterozygotes (Tt) were found to be tall plant.When the F1 hybrids
were allowed to cross among themselves or self fertilization, they produce tall and dwarf
plants in the ratio 3:1 in the F2 generation.
 In this cross the homozygous tall plant has two dominant genes(TT) and the
homozygous dwarf plant has two recessive genes(tt). Because their gametes may have
only one allele. So the gametes of tall plant have single allele(T) and the gametes of
dwarf plant have only one allele(t). During fertilization, the gametes of both genotypes
are fused to form a heterozygote of the genotype(Tt) and phenotype of tall plant ,
showing dominance of ‘T’ allele over recessive allele ‘t’ . During developmental stages ,
each gene replicating and living together but during gametogenesis both alleles (genes)
segregate from each other in their original forms to produce 50% gametes with a
dominant gene (T) and 50% gametes with a recessive gene(t).

Phenotypic ratio=3:1
Tall plants(T)-3 and Dwarf plants(t)-1
Genotypic ratio=1:2:1
Homozygous tall(TT) – 1
Heterozygous tall(Tt) – 2
Homozygous dwarf(tt) – 1

EXPERIMENT:-

Parents -- TT x tt
Gametes -- T x t
F1 -- Tt Heterozygous hybrid

P2 ---- Tt x Tt (self fertilization)

F2 ------ TT Tt Tt tt

PUNNETS SQUARE OR CHECKER BOARD:

T t
T TT Tt
t Tt T

PHENOTYPIC RATIO ----- 3:1

GENOTYPIC RATIO ----- 1:2:1

LAW OF INDEPENDENT ASSORTMENT:-

EXAMPLE:
DIHYBRID CROSS:-
 The cross made between two pure breeding
plants, where the inheritance of two different inherited characters are studied at the same
time, is called dihybrid cross.

EXPERIMENT:-
Seed shape is determined by a single gene that has alleles
llFor round ,R (or) wrinkled seeds ,r The round phenotyp
wrinkled. Seed colour can be yellow or green. Again this
a single gene. Yellow,Y is completely dominent over gre
. The homozygous pure bread round
crossed with another homozygous pure bread wrinkled gr
gametogenesis, the homozygous genes of each parent pla
produce the gamete with genotype of RY and ry. The RY
the F1(first filial) generation which is heterozygous with
yellow and genotype of RrYy displaying the completed d
the r&y alleles.

However, when two of the F1 individuals are cro

produces four kinds of gametes in equal numbers,RY,Ry,
form 16 combinations in F2(second filial) generation, th
can be studied by Punnete sqare or checker board. The ph
yellow, 3 round green, 3 wrinkled yellow and one wrinkl
Phenotypic ratio = 9:3:3:1

Experiment-
Parents—YYRR x yyrr

Gametes--RY ry
F1 -- RrYy(heterozygous)
P2—RrYy x RrYy(self fertilisatio
G2—RY Ry rY ry

F2 Generations-
Punnete square or checker board-
MODIFICATION OF MONOHYBRID RATIO
(OR)
MODIFICATION OF MONOHYBRID 3:1PHENOTYPIC
RATIO

1. Incomplete dominance:
Dominant allele fails to mask the phenotypic
effect of the another allele in the heterozygous condition
incomplete dominance (or) partial dominance.

Eg: four-o-clock plant (Mirabilis jalapa)

Flower color trait

P1 Red x White
RR rr

R
r
R

Rr (pink flower) F1

F1 Selfed Rr (pink) x Rr(pink)

R
r R r

R r

R RR(red) Rr(pink)

r Rr(pink) rr (white)
Phenotypic ratio :- Red : Pink : White
1 : 2 : 1
Genotypic ratio :- RR : Rr : rr

Eg: Andulasian fowl

Black (BB)
White (bb)
Blue (Bb)

2. Co dominance :
In co dominance , due to lack of dominant
recessive relationship both the allele have capability to express
them phenotypically in the heterozygous condition.
Eg: cattle coat colour

P2 Red coat x White coat

RR rr

R r

Rr (roan) (reddish grey)

( Mixture of red & white hairs )

F1 x F1

R r

R RR Rr
(red) (roan)
r Rr rr
(roan) (white)
Phenotypic ratio:- Red : Roan : White
1 : 2 : 1
Genotypic ratio :- RR : Rr : rr
1 : 2 : 1

eg :- blood group

3. Hetero dominance:-
The extreme phenotypic expression of F1
hybrid (heterozygote) than their parents is called hetero
dominance or over dominance or super dominance.

Eg :- Panicle length
Medium x Small
(10 cm) (5 cm)
MM mm

Tall (15 cm)

Mm
F1 selfed Mm x Mm

M m 1-
MM
M MM(medium) Mm(tall) (medium
panicle)
m Mm(tall) mm (small)
– 10 cm
 2 - Mm (tall panicle) - 15 cm
1 - mm (small panicle) - 5 cm

Phenotypic ratio :- 1 : 2 : 1
Genotypic ratio:- 1 : 2 : 1

Lethal allele :-
The genes usually cause death of the organism in
zygotic , embryonic stages (or) early stage after the birth. Thus
modify the 3:1 phenotypic ratio in to 2:1.

(a)Dominant lethal :
‘Y’ yellow gene ‘incompletely dominant’ ,
and in homozygous (YY) cause lethality.
Eg : ‘yellow’ lethal in mice by Cuenot(1905)

F1 yellow x yellow
Yy Yy

Y y
Y YY Yy
(yellow) (yellow)
y Yy yy
(yellow) (black)

YY Yy yy
Yellow yellow black
1 : 2 : 1
[DIE]
 eg :- Creeper – shortened deformed leg in chicken
creeper (CC) creeper(Cc) normal(cc)

Recessive lethal :
Lethality occurs when the individual carries
homozygous recessive alleles.
Eg : - Snapdragon
Auria or golden – yellowish green plant

F1 Auria x Auria
Cc Cc

Cc : Cc : cc
Auria Auria white
1 : 2 : 1
(lethal)
eg :- maize (zea mays)
F1 Green x Green
Gg Gg

GG : Gg : gg
Green : Green : white
1 : 2 : 1 (albino/lethal)
3
Genic Interaction (or) Non-Allelic Interaction:
The expression of a single character by the
interaction of more than one pair of gene is called gene
interaction or interaction of genes.
Bateson & Punnet proposed factor hypothesis to
explain gene interaction. According to this hypothesis some
characters are produced by the interaction of two or more pairs
of factors(genes).
Two types:
-non allelic gene interaction
-allelic gene interaction
 The genic interaction occurring between genes located in
different locus of the same chromosome or different
chromosomes is called as non-allelic gene interaction.
The genic interaction between the two alleles of a
single locus is known as allelic gene interaction.

GENE INTERACTION:

Factor hypothesis:
The expression of an allele of one gene will
sometimes alter the expression of alleles of another gene (non-
allelic) is called Gene interaction orNon-allelic interaction

William Bateson and R.C.Punnett in fowl comb shape.

Domestic breeds Shape of comb

Wyandottes Rose
Brahmas Pea
Leghorns Single

Wyandottes and brahmas were crossed and all F1 chickens

had Walnut comb, a phenotype not expressed in either parents .
When F1 chickens were mated among themselves (Walnut)
in F2 dihybrid ratio was observed (9:3:3:1).
Walnut birds -9
Rose -3
Pea -3
Single -1

Represents:

Walnut (R_P_) two dominant combinations

 Single (rr pp) recessive combination.

OBSERVATION MADE:
1. F1 progeny differs from those of the parent (that is non rose or
pea).
2. Two phenotype (walnut and single) not expressed in the original
parents appeared in F2.
Rose x Pea
RRpp rrPP

RrPp walnut F1
F1 crossed

Gametes RP Rp rP rP
RP RRPP RRPp RrPP RrPp
W W W W
Rp RRPp RRPP RrPp Rrpp
W R W R
rP RrPP RrPp rrPP rrPp
W W P P
rP RrPp Rrpp rrPp rrpp
W R P s
 Walnut -9 (R_P_) -interraction (non allelic).
Rose -3 (R_pp) -R>r
Pea -3 (rr P_) -P>p
Single -1 (rrpp) -r,p recessiveness.

Biochemical basis of Gene Interaction :

Generally phenotypic expression of a trait resulted

from product of many genes and their interaction with
environment.
In a biochemical pathway many steps of reaction will
occur to convert precursor to end product.
Gene 1 G2 G3

enzyme 1 enzyme2 enzyme3

Precursor(p) A B C end
product

Any change in gene 1,2,3 or absence of any of these genes ,

will not produce end product and fails to produce desired
phenotype.

Epistasis :
Any gene that mask the expression of another non-
allele gene is called epistasis.
The gene mask the effect of another gene is called
epistatic gene (or) suppressor.
The gene, which is suppressed by a epistatic gene is
called hypostatic gene.
 1. Dominant Epistasis:

Black dog x White dog

iiBB IIbb

white dog F1
IiBb
Gene ‘I’ dominant epistatic inhibitor prevent the effect gene
B (or) b.
Gene B (black) dominant over b (brown).
“ Dominant allele of a gene suppress the expression of
another gene (either dominant or recessive) produce new
phenotype is called dominant epistsis.”

F1 white dog x white dog

IiBb IiBb

Gametes IB Ib iB ib
IIBB IIBb IiBB IiBb
IB
IIBb IIbb IiBb Iibb
Ib
IiBB IiBb iiBB iiBb
iB
IiBb Iibb iiBb iibb
ib

9 I_B_ : white dog

3 I_bb : white dog
3 ii B_ : black dog
1 ii bb : brown dog
phenotypic ratio: 12 : 3 : 1
white : black : brown

2. Recessive epistasis (or) supplementary gene interaction :

Recessive alleles of one gene locus masked the
phenotypic expression of alleles of another gene.
Due to this gene interaction the dihybrid phenotypic ratio
of 9:3:3:1ismodified to 9:3:4.

Eg: mice coat colour

Albino x Black
AAbb aaBB
A
ab
b

AaBb- Agouti (grey) F1

F1 x F1 AaBb x AaBb

gamets AB Ab aB ab

AB AABB AABb AaBB AaBb

agouti Agouti agouti agouti
Ab AABb AAbb AaBb Aabb
agouti Albino agouti albino
aB AaBB AaBb aaBB aaBb
agouti Agouti black black
ab AaBb Aabb aaBb aabb
agouti Albino black albino
 black

9 A_B_ Agouti
3 A_bb Albino Agouti : Black : Albino
3 aa B_ Black 9 : 3 : 4
1 aabb Albino

3. Duplicate genes with cumulative effect (9:6:1):

When two different genes governing same trait come together in

dominant condition the effect are get increased .
Eg: Pig coat colour
Sandy type x Sandy type
(partial colour)
RRss rrSS

RrSs ( All red) F1

F1 x F1
 Gamets RS Rs rS rs

RS RRSS RrSs RrSS RrSs

red red red red

Rs RRSs RRss RrSs Rrss

red sandy red sandy

rS RrSS RrSs rrSS rrSs

red red sandy sandy

rs RrSs Rrss rrSs rrss

red sandy sandy white

F2 phenotype:
9 R_S_ Red
3 R_ss Sandy
3 rr S_ Sandy
1 rrss white
9 : 6 : 1
Red : Sandy : White

4. Duplicate gene action :

• Single character is controlled by two or more non allelic genes
independently.
• G.H Shull (1914) in Shepherd’s purse weed capsule shape
(triangular and oval).
• Triangular shape controlled by two dominant genes T and D
independently.

Triangular x oval
P1 TTDD ttdd
T
td
D
TtDd (triangular) F1
gamets TD Td tD td

TD TTDD TTDd TtDD TtDd

tri tri tri tri
Td TTDd TTdd TtDd Ttdd
tri tri tri tri
tD TtDD TtDd ttDD ttDd
tri tri tri tri
td TtDd Ttdd ttDd ttdd
tri tri tri Oval

F1 x F1 TtDd x TtDd

F2 Phenotypic ratio 15:1

9 T_D_ -Triagular
3 T_dd -Triangular
3 tt D_ -Triangular
 1 tt dd -Oval

Bio chemical basis:

Two different genes(non-allalic) produce enzymes

that are able to catalyze the same reaction by duplicate pathway.
enzyme 1(gene1)

Precursor End product

enzyme 2(gene 2)

5. Complimentary Gene Interaction (or) Duplicate Recessive

Genes(9: 7)

Two different dominant genes complement each

other and produce a new phenotype , called Complimentary
gene action.
Eg. Sweet Pea (Lathyrus odoratus) flower colour
by Bateson and Punnett.

White flower x White flower

CCpp ccPP

CcPp (Red flower) (F1)

F1 x F1 CcPp x CcPp

CP Cp cP cp

CP CCPP CCPp CcPP CCPp

Red Red Red Red
Cp CCPp CCpp CcPp Ccpp
Red White Red White
cP CcPP CcPp ccPP ccPp
Red Red white white
 Cp CcPp Ccpp ccPp Ccpp
Red White white white

Dihybrid F2 ratio modified to 9 : 7 from 9 : 3 : 3 : 1

9 C_P_: Red 9
3 C_pp:
3 cc P_: white 7
1 cc pp:

Biochemical basis :
The pigment anthocyanin is responsible for the
production of red colour flower. This anthocyanin is produced
from colourless substance called chromogen.
By action of an enzyme the chromogen is converted
into anthocyanin.

Dominant gene ‘C’ Chromogen (colourless)

Dominant gene ‘P’ Enzyme

Presence of both ‘C’ and ‘P’ dominant genes the

chromogen produced by gene ‘C’ and it converted into
anthocyanin by an enzyme produced by gene ‘p’.
enzyme
chromogen anthocyanin
(Red colour)
If both the genes are in recessive condition‘c’ and ‘p’ ,
chromogen and enzyme is not produced.
So, absence of any one of the dominant gene the
metabolic reaction will not be completed and fails to produce
anthocyanin pigment which results in white colour flower.

6. Dominant and recessive interaction (or) Inhibiting Gene

action :
 Dominant allele of a gene inhibit the
expression of another gene irrespective of its dominant or
recessive nature .Thus modify the F2 dihybrid ratio of
9 : 3 : 3 : 1 to 13 : 3.
Eg : colour of Leghorn type poultry by Bateson and
Punnett (1908).

White x coloured
IIcc iiCC
Ic
iC
A
ab
b
IiCc (White) F1

F1 x F1 IiCc x IiCc

Gametes IC Ic iC Ic
IICC IICc IiCC IiCc
IC White White White White
IICc IIcc IiCc Iicc
Ic White White White White
IiCC IiCc iiCC iiCc
iC White White coloured coloured
IiCc Iicc iiCc Iicc
ic White White coloured White

Phenotypic ratio – 13 : 3
White : colored

MULTIPLE ALLELE
 The genes having more than two alternative or allelic forms
occupying same locus and controlling single trait is called multiple
alleles.

CHARACTERS OF MULTIPLE ALLELES:

1.Multiple alleles always occupies the same locus in the
chromosome.
2.No crossing over within multiple alleles.
3.Multiple alleles always influence same character.
4.multiple alleles produce series of dominance and recessive
interaction.
5.Wild type alleles shows dominance to all other types of
alleles.

EXAMPLES OF MULTIPLE ALLELES

1. Rabbit coat colour.
2. Blood group.
3. Drosophila wings type.
4. Self sterility in tobacco.

MULTIPLE ALLELISM IN RABBIT COAT COLOUR

Rabbit coat colour is controlled by multiple alleles.
There were four varieties of rabbits -Agouti, chinchilla, Himalayan
and albino.
1. Agouti: This is wild type rabbit and its body is brownish grey
in colour. It is represented by C+ and shows dominant
reaction with all other types.
2. Chinchilla: The rabbit is silvery grey in colour represented
by Cch mutant allele. It is dominant than Himalayan and
Albino.
3. Himalayan: Rabbit shows ears, nose, tips of the limbs are
coloured rest of the body is white. It is represented by allele
Ch mutant. It is dominant than Albino.
4. Albino: Rabbit shows lack of pigmentation represented by
mutant allele ‘C’. It is recessive to all other types.
 Dominant reaction of multiple allele C+>Cch>Ch>C
Phenotype and Genotype - rabbit coat colour
Phenotype Genotype Dominance
Agouti C+C+, C+Cch, C+Ch, C+C C+>Cch,
C+>Ch
C+>C
Chinchilla CchCch, CchCh, CchC Cch>Ch
Cch>C
Himalayan ChCh,ChC Ch>C
Albino CC Recessive to all types

CROSS 1:
Eg: Agouti X Chinchilla
C+C+ CchCch
C+Cch (Agouti) F1
C+C+, C+Cch, CchCch
1 : 2 : 1
----------------
Agouti : chinchilla
CROSS 2:
Eg: Agouti X Himalayan
C+C+ Ch C h
C+Ch (Agouti) F1
C+C+,C+Ch, ChCh
1 : 2 : 1
------------
Agouti : Himalayan

CROSS 3:
Eg: Agouti X Albino
C+C+ CC
C+C (Agouti) F1
C+C+, C+C, CC
---------------
1 : 2 : 1
 Agouti Albino
All the above crosses indicates that Agouti type allele is dominant
than all other types .(C+>Cch>Ch>C)

CROSS 4:
Eg: Chinchilla X Himalayan
CchCch ChCh
CchCh (Chinchilla) F1
CchCch:CchCh:ChCh
1 : 2 : 1
------------
Chinchilla Himalayan
CROSS 5:
Eg: Chinchilla X Albino
CchCch X CC
CchC Chinchilla F1
CchCch:CchC:CC
1 : 2 : 1
------------
Chinchilla Albino
The above two crosses confirm that the allele for chinchilla (Cch) is
dominant to Himalayan(Ch) and Albino© types
CROSS 6:
Eg: Himalayan X Albino
ChCh CC
ChC Himalayan F1
ChCh : ChC : CC
1 : 2 : 1
----------
Himalayan Albino
This cross suggest that Himalayan type is dominant to Albino.

BLOOD GROUPING INHERITANCE

Human blood contains two principal components,
1. cells (red,white,platelets)
 2.liquid (plasma)
The plasma is composed of clotting protein fibrinogen and
serum.When the serum of one individual is mixed with serum of
the other person , some cases the red blood cells gets clumped .
The clumping or agglutination of red blood cells takes place due to
the antigen antibody reaction. This was first observed by
landstainer(1900).

ANTIGEN ANTIBODY REACTION

Whenever any foreign molecules (micro/macro)
(protein) is injected in the blood of man and other higher
vertebrates , then the blood will react to eliminate/neutralize that
foreign substance from it. Such foreign substances are called
antigen (agglutinogens). The antigen may be plant or animal
proteins, bacterial or viral toxins.
In response to antigen appearance in blood,
another protein molecule produced which will superficially
interact with antigen is called antibody (agglutin or immune
body).The interaction between antibody and antigen changes form
of the antigen and is destroyed, inactivated or eliminated from
blood circulation .
The antibodies are highly specific for a particular
antigen. The types of antibodies are:
1. Acquired antibody:
Acquired antibodies are produced by
plasma cells only during the time of entry of foreign antigens in the
blood.
2. Natural antibody:
Natural antibodies are produced by
the blood, even in the absence of appropriate antigens.
Eg:ABO blood group in the human being.

ABO BLOOD GROUP IN HUMAN BEING

Land Steiner(1900) identified two kinds of antigens
called A and B antigens from surface of the red blood cells.
Accordingly he recognized three types of blood groups namely
A,B,andO.
In 1902, Land steiner’s student Von Decastle and Sturli
identified fourth type of blood group called AB.
BLOOD GROUPS ANTIGEN(RBC) ANTIBODY(SERUM)
A A ANTI-B
B B ANTI-A
AB A,B NONE
O NONE ANTI-A
ANTI-B

The terminal sugar present in the antigen A in galactosamine

and in antigen B is galactose.
Four blood group have different agglutising properties. To
determine the blood group agglutinisation test is performed.
On a glass slide is placed a drop of type A serum (containing
anti-B antibodies)a separate drop of type B serum(containing anti-
A antibodies).
When a drop of type ‘O’ blood is added to each drop there is
no agglutination or clumping of red blood cells in either drops.
This shows that ‘o’blood group has neither A nor B antigen
If a drop of type B blood is added , agglutination occurs with
type A serum. Type A blood agglutinated with type-B serum
AB red blood cells agglutinated with both serum

GROUP ‘O’

GROUP ‘A’
GROUP ‘B’

GROUP ‘AB’

AB red blood cells agglutinated with by both sera.

Group O

Group A

Group B

Group AB

A
A

O O AB AB
 B
B
Based on antigen,antibody reaction in blood the possible blood transfusion
are:

Blood group antigen antibody accept blood agglutinised

from

A A Anti-B A or O B, AB

B B Anti-A B or O A,AB

AB A,B none A,B,AB or O None

O none Anti-A O A,B and

Anti-B AB

AB blood group persons are called as UNIVERSAL RECIPIENT,

Because they can receive blood from all blood groups.
The O blood group persons are called universal donor, because they can
donate their blood to any other group. But they can receive from
only O group and not from other groups

MULTIPLE ALLELES IN BLOOD GROUP ANTIGENS

OR
GENETICS OF ABO BLOOD GROUP IN HUMANS

There are four types of blood in human being .A,B,O blood

group are identified by Landsteiner. AB group was identified by van De
Cartelle and Struli .
The ABO locus has three types of alleles I A ,IB and IO
IA is dominant over IO
IB is dominant over IO
In heterogeneous condition IA and IB are codominant(IA IB)
IO is recessive ( IO IO) homozygotes produce no antigen
GENOTYPE PHENOTYPE
A A A O
I I ,I I A
 IBIB,IBIO B
IAIB AB
IOIO O

If Blood group A ( IAIA ) male carries blood group B (IBIB) the blood group
of children are ;
IAIO x IBIO

IAIB , IBIO

AB Group , B Group

Other blood group system in human :

Apart from A,B,O type many blood groups are reported like
Rh,MNS,Lewis,P,Xg, etc. ABO,Rh factor forms to be important for blood
transfusion and other types shows little importance.

Rh FACTOR ALLELES IN HUMANS:

The Rh factor was discovered in 1940 by K.Landsteiner and A.S .Wiener

in monkey Macca rhesus. Later similar types also identified in human
being , besides A and B antigens. There are two groups of human being, the
individuals whose blood cells react with Rh antibody are termed as Rh
positive and those which do not react are Rh positive. The symbol ‘Rh’
came from the first two letters of the species name of the monkey.
The Rh+ person contains Rh antigen present on the surface of RBC,
whereas Rh- person does not contain Rh antigen. The Rh antigen has no
natural antibodies-however, Rh antibody can be produced artificially. An
Rh- person develops Rh antibody when he receives blood from a Rh+
person, even in small quantity(0.05ml).The antibody once formed remains
throughout the life.

GENETICS OF Rh BLOOD TYPE:

The Rh factor is controlled by a pair of alleles R and r
R allele produce Rh+ blood type
r allelle produce Rh- blood type

The Rh+ blood type is found to be composed of several antigens, which

indicates possibility of multiple allelism of gene ‘R’.
 There were two hypothesis proposed to explain inheritance of R gene.
1 .WIENER’S HYPOTHESIS:
Wiener postulated a number of (around eight) multiple allelles at single
locus for ‘R’ gene.
2.FISHER’S HYPOTHESIS:
Fisher rejected the Wiener’s multiple allelism for ‘R’ gene. He proposed
that at least three pairs of pseudoalleles remain closely linked to each other
and inherited as block (CDE/cde), due to possible recombination presence of
anyone of the dominant gene ‘D’ produce Rh+ type. All recessive ‘cde’ gene
produce Rh- type. This hypothesis was widely accepted .

ERYTHROBLASTOSIS FOETALIS:
If a woman is Rh- and her husband is Rh+ , blood from the foetus may
pass through the placenta into the maternal blood stream and stimulate the
formulation of antibodies (anti-Rh antibodies). The first born baby would
not have any affect due to Rh factor. Then, when this women becomes
pregnant a second time, some of these antibodies may pass through the
placenta into the child’s bloodstream and cause clumping of its red blood
cells, this condition is called erythroblastosis foetalis. More frequently the
baby is born alive but dies after birth. In extreme cases so many RBC are
destroyed and the baby dies before birth.

Unit-II

CHROMOSOME:
 Chromosomes are the rod shaped dark
stained bodies seen during metaphase stage of mitosis , when the
cells are stained with a suitable basic dye and viewed under a light
microscope. It has two sister chromatids joined by centromere and
four arms.
Chromosomes were first described by Strasburger (1875)
Term chromosome was first used by Waldeyer (1888).
Chroma = colour , Soma = body

CHROMOSOME NUMBER:
Each species has a constant somatic and
gametic chromosome number.
Somatic chromosome number is the number of
chromosomes found in somatic (vegetative) tissues of a species,
represented by 2n (two copies of each chromosomes).
The two copies of a chromosome are ordinarily similar
morphology, gene content and gene order called homologous
chromosomes.
Gametic chromosome number is one half of the somatic
number, is represented by (n) and it is number of chromosomes
found in the gamete of a species.

Somatic Gametic
Pea (Pisum sativum) 14 7
Rice (oryza sativa) 24 12
Maize (zea mays) 20 10
Fruitfly(Drosophilamelanogaster) 8 4
Man(Homo sapiens) 46 23

CHROMOSOME SIZE:
The chromosome size shows variation
depending up on the stage of cell division.
The size of mitotic metaphase chromosomes of various
animal and plant species generally varies between 0.5micro meters
and 32 micro metres in length and between 0.2micro metres and
0.3 micro metre in diameter . In general plants have longer
chromosomes than animal. The species have lower chromosome
number have longer chromosome than those of higher
chromosome number .

EUKARYOTIC CHROMOSOME STRUCTURE OR

MORPHOLOGY:
The meiotic metaphase is ideal stage to
study chromosome morphology,
The structural features are
1,Chromatid
2. centromere
3.Telomere
4.Secondary structure

CHROMATID:
The chromosome is longitudinally divided into two
identical parts known as chromatid. Two chromatids are joined by
centromere.
The chromatids of a chromosome formed by
replication and single chromatid is referred to as sister chromatids.
Chromatids of the homologous chromosomes are referred as non-
sister chromatids.

chromatids
centromere

Telomere

CENTROMERE:
 The region where two sister chromatids of a
chromosome joined together is known as centromere .It appears as
constriction (narrow region) in chromosome is termed primary
constriction,
The centromere helps in the movement of
chromosomes in anaphase, hence it is known as kinetochore.

TELOMERE:
The two ends of a chromosome are known as
telomeres. Telomeres are highly stable and they do not unite with
telomeres of other chromosomes.

SECONDARY CONSTRICTION:
In some chromosomes, a second constriction is
present in addition to primary constriction (centromere), the
additional constriction is known as secondary constriction.
The DNA generally present near telomere is
known as satellite chromosome.

Secondary consrtiction

Based on position of the centromere the chromosome

divided into four classes:
1. metacentric
2. sub metacentric
3. acrocentric
4. telocentric
• In metacentric chromosome , centromere is located in the
centre of the chromosome. It appears ‘v’ shaped during
anaphase .
• In sub metacentric chromosome the centromere is located
on one side of the central point
• In acrocentric the centromere located close to one end of
the chromosome.
During anaphase the sub metacentric and
acrocentric appears as ‘j’ shaped. In Telocentric chromosome
the centromere is located in one end.

Metaphase:

Anaphase:

KARYOTYPE:
Karyotypes are presented by arranging the
somatic chromosomes in a descending order of size keeping
their centromere in a straight line. Thus the longest
chromosome is placed on the extreme left and the smallest on
extreme right.
IDIOTYPE:
The karyotype of a species may be represented
diagrametrically showing all the morphological features of
chromosomes is called idiotype.
Idiotype generally represented with haploid
chromosome.

EUCHROMATIN:
The part of a chromosome which take deep stain
during cell division but do not stain during metaphase.
Euchromatin is genetically active parts of chromosomes.

HETEROCHROMATIN:
 The parts of chromosome (or chromatid) which
take up dark stain during interphase is genetically inactive.
These region usually contains repetitive DNA sequences which
rarely transcribed.
MODELS OF CHROMOSOME STRUCTURE:
Two different models of chromosome structure
based chromatin fibres
1.Multistrand model
2.Foled fibre model
FOLDER FIBRE MODEL:
Proposed by DuPraw(1965) and is widely
accepted.
According to this model, chromosomes are made up of
chromatin fibres , with average diameter of 230A .
Each chromatin fibre contains only one DNA double
helix which is in a coiled state.This coiled DNA is coated with
histone and non histone proteins. The coils of DNA are
stabilized by proteins and divalent cations (ca++ and mg++).
Each chromatid contains a single long chromatin fibre.The
DNA of this chromatin fibre replicates during interphase
producing two sister chromatin fibres.

ORGANISATION OF CHROMATIN FIBRES:

 Two models of chromatin fiber structure
have been proposed
1. coiled model – Dupraw
2. nucleosome-solenoid model

NUCLEOSOME-SOLENOID MODEL:
Proposed by Kornberg and Thomas (1974) and is
most widely accepted model. The eukaryotic chromatin is
composed of a repeating unit called nucleosome.
One complete nucleosome consist of
1. nucleosome core
2. linker DNA
3. Average of one H1 histone molecule
4. other associated chromosomal proteins

The nucleosome core of a histone octamer

composed of two molecules of each histone (H2a,H2b,H3&H4)
A 146bp long DNA molecule coiled around this histone
octomer.
The size of linker DNA varies from 8bp to 114bp
depending on species.The linker DNA forms the string part of
the chromatin fibre.
The nucleosome fibre super coiled.The super coiled
nucleosome fibre is called solenlid and may be stabilized by H1
histone.
PROKARYOTIC GENOME ORGANISATION:
BACTERIA:
In Bacteria the nuclear material is not separated from
the cytosol by membrane as it is eukaryotic cells. However, the
nuclear material is usually concentrated in a specific region of cell
called Nucleoid. During cell division , nucleoid DNA becomes
adhered to plasma membrane and is described to the daughter cells
with out formation of observable chromosomes.
Nucleoli are not presenting the nucleoid.The nuclear
membrane is found in a highly condensed state called the “folded
genome”. In this state the single DNA molecule is arranged in
several loops or domains , each of which is highly twisted or super
coiled.This structure is associated with RNA and proteins (Histone
like protein).

VIRAL GENOME:
All viruses or virions are extremely small, they are
diverse in size and in organization. Generally, viruses range in
diameter (length) from about 20 to 200nm. Most virions are either
rod shaped or guasi spherical and contain a nucleic acid core
surrounded by a specific geometric array of protein molecules that
form a coat or capsid. Many animal viruses and in some plant
viruses, a lipoprotein envelope surrounds the capsid.
The nucleic acid is generally DNA in living organisms
except some RNA viruses where the genetic information is stored
in RNA. Replication of the genetic material in viruses takes place
in the host cells.
NON SENSE MUTATION:
A substitution (or) change of base in DNA
due to mutation leads to generation of one of the stop codon ,
which will result in premature termination of translation of a
peptide chain is called non sense mutation.

METHODS OF CHROMOSOME ANALYSIS:

step1: chromosome preparation
Step2: chromosome banding
Step3: karyotype analysis

1. PREPARATION OF A KARYOTYPE (CHROMOSOME

PREPARATION):
5 ml venous blood

Add phytohaemagglutelin and culture

medium
 Culture at 370c for 3 days

Add colchicine and hypotonic saline

Cell fixed & spread cells in slide by droping

Digest with trypsin and stain with Giemsa

Analyse metaphase spread

Develope karyotype

2. CHROMOSOME BANDING:
Several staining methods can be utilized to identify individual
chromosomes. First arrest spindle fibre formation using colchicine
at metaphase.
1. G (Giemsa) banding:-
This is most commonly used method. The
chromosomes are treated with trypsin which denatures their
 protein content and then stained with a DNA binding dye
known as Giemsa which gives each chromosome a
characteristic and reproducible pattern of light and dark bands.

2.Q(Quinacrine) banding:-
This gives a banding pattern similar to that
obtained with Giemsa , and requires examination of the
chromosomes with an ultraviolet fluorescent microscope.

3.R(Reverse) banding:-
The chromosome are heat denatured before
staining with Giemsa , this results in light and dark bands which
are the reverse of those obtained using normal G banding.

4.C(Centromeric heterochromatin) banding:

If the chromosome are pretreated with acid
followed by alkali prior to G banding , the centromeres and
other hetero chromatic regions containing highly repetitive
DNA sequence are preferentially stained.

KARYOTYPE ANALYSIS:
KARYOTYPE: Arrangement of metaphase chromosomes in a
sequence according to length and position of the centromere.
Karyotype analysis involves first counting the number of
chromosomes present in a specified number of cells, something
reffered to as metaphase spreads, followed by careful analysis of
the banding pattern of each individual chromosome in selected
cells.
Usually the total chromosome count is determined i.e., 10
to 15 cells of high quality banding i.e., metaphase spreads.(30 or
more & mosaicism suspected)
The banding pattern of each chromosome is specified and
can be shown in the form of a stylized ideal karyotype known as
an ideogram.
 The karyotype (or) karyogram will show each
chromosome pair in descending order of size.

EXAMPLE:
HUMAN KARYOTYPE:
Denver adopted a system for classifying and
identifying human chromosomes. The 22pairs of autosomes were
numbered in descending order of length and classified according to
the position of the centromere as metacentric sub- metacentric and
acrocentric chromosome.

Human Karyotype

Denver report Description

1.Group 1-3 Large chromosome with appro-

ximately median centromeres.
2.Group 4-5 Large submetacentric
chromosome.
3.Group 6-12 Medium sized submeta centric
chromosome.
4.Group 13-15 Large acrocentric chromosom.
5.Group 16-18 No.16 ,Metacentric,no.17-18,
are small submetacentric
chromosome.
6.Group 19-20 Small metacentric chromosome
7.Group 21-22 Short acrocentric chromosomes

8.Sex chromosomes X and Y

SPECIAL TYPES OF CHROMOSOMES:

Polytene Chromosome: (Giant chromosome):

 It is present in certain salivary gland tissues of
Dipterian flies(eg.Drosophilia).Extremely large chromosomes are
present in the nucleus of the interphase cells in these tissues .In the
nucleus many extra replication of a single chromatid or DNAstrand
takes place producing thousands of replicates .This type of
replication is called as “Endo replication”.All replicates or
chromatids of the same chromosome are lined up together in a
parallel fashion. This type of parallel duplication is called as
“Polyteny” which produces very thick chromosomes .Staining of
these chromosomes produce distinct banding patterns. The dark
bands consists of chromomere and the interband(lightband)consists
of chromonemata. Some bands appear to be swollen along the
length of the chromosome.These swollen regions are called as
“Puffs or Balbiani rings”.In this region the segment of the
chromomere is in the highly extended state and it represents the
region of active transcription.

LAMPBRUSH CHROMOSOME:

They are present during the prophase-1 of

oogenesis in some vertebrates, mainly amphibians with large yolky
eggs.They store large amounts of proteins in the eggs.The
lampbrush chromosomes are 800micro.m long having long lateral
loops giving a hairy “Lampbrush”appearance.The homologous
chromosomes pair up and each chromosome produce 2 chromatids
at the lampbrush stage.The structure of lampbrush chromosome
consists of a central axial region with numerous pairs of lateral
 loops. The central axial region consists of 2 chromatids which are
highly condensed.The lateral loops represent the transcriptionally
active region.Each pair of lateral loop arise from a single
chromomere.The loop length varies within asingle chromosome.At
the end of meiotic prophase-1 loops begins to disappear and the
chromosomes contract and attain the usual small size in metaphase.

SEX DETERMINATION

Sexually reproducing organisms may be classified into :

1. Monoceious:
Both male and female reproducing organism produced in single plant and in
different flowers.
Eg: maize
2. Hermaphrodite:
Both male(androecium) and female(gynoecium)reproducing organs are
produced in single flower
Eg: paddy
3. Dioecious:
Male and female gametes are produced in different individuals.
Eg: papaya

Primary sexual characters:

The characters formed during birth such as sex cells , reproductive

organ that differentiate sex.
Secondary sexual characters:

The secondary sexual characters are developed during course of

development.

Mechanism of sex determination :

i. Genetically controlled mechanisms:

a.Sex chromosomes

1)heterogametic male 2)heterogametic female

Eg : human Eg: bugs

b. Gene balance Eg: Drosophila

c. Male haploidy or Haplodiploidy Eg: honey bee
d. Single gene effects Eg: neurospora
ii. Metabolically controlled sex determination Eg: pigeons

iii. Hormonally controlled sex determination

Eg: higher animals

iv. Environmentally controlled sex determination

Eg: bonellia

In case of dioecious organism there are two types of chromosomes:

1) Autosomes:
The chromosomes and their genes determines the somatic characters of the
individuals are known as “autosomes” (A) and they do not have any relation with the
determination of sex.

2) Sex chromosomes :
The chromosomes which are responsible for the determination of sex are known
as “sex chromosomes”.
Eg: X and Y chromosomes

CHROMOSOMAL SEX DETERMINATION :

In dioecious diploid organisms following two systems of sex chromosomal

determination have been recognized ;
i)Heterogametic males.
ii)Hetrogametic females.
Heterogametic males :

In this type , female has two ‘x’ chromosomes and male has one ‘x’ and one ‘y’
chromosomes.
During gametogenesis female produce only one type of gametes
containing one ‘x’ chromosome . sex produce similar type of gametes called Homogametic sex

Incase of male it produce two types of gametes carrying x and y chromosomes

in equal proportion. The sex which produces two different types of gametes in terms of sex
chromosomes called Heterogametic sex

TYPE: XX-XY:

Eg: man other mammals

• Female is having homomorphic X chromosomes (XX)

• Male is having heteromorphic sex chromosomes produce X and Y type of gametes.
So, sex of the gametes or individuals are determined by gametes produced by males.

MALE FEMALE

XX-XO TYPES :
 Eg: Bugs and grasshoppers
• Female and homogametic and is having two X chromosomes (XX)
• Male is having only one ‘X’ chromosome refered as ‘XO’ and it produce
two types of gametes ,half with ‘X’ chromosome and alf without ‘X’ chromosome.
• Type of sex is determined by the male gametes.

HAPLOID – HAPLODIPLOIDY MECHANISM:

Eg: bees, wasps ,ants

• The male is determined by unfertilized haploid and female is developed from

fertilized egg(2n)
• In this case meiosis is normal in female and no spermatogenesis in males due to their
haploidy (n)
• Among diploid female, the female fed by royal gelly developed into queen and other
females acts as workers .

ENVIRONMENTAL SEX DETERMINATION :

Eg: bonellia viridis – marine worm
• The larvae are released by female into water . The larvae reared in isolation and
develop into female. Some larvae swim and contact with female proboscis develop
into a male.
• The female produces a hormone like substances that influence the larvae towards
maleness.

SEX CHROMOSOME
 •The sex chromosome ( X and Y ) are of unequal size, shape (heteromorphic) and show
difference in staining duality.
•In man and drosophila the ‘X’ chromosomes found to be straight, rod like and
comparatively larger than ‘Y’ chromosome.
•‘Y’ chromosome of man and drosophila are smaller than X chromosome , however in
‘Y’ chromosome of drosophila , one end remain slightly curved or bent to one side.
• The inheritance of ‘X’ an ‘Y’ linked gene is called sex linked inheritance .The
inheritance of ‘X’-linked genes called X-linked inheritance. The inheritance of ‘Y’-linked
genes is called ‘Y’-linked inheritance .

Examples for sex linked inheritance:

i) Colour blindness
ii) Haemophilia
iii) Eye colour in drosophila
iv) Hypertrichosis (hair in the ear pinna)
v) Ichthyosis hystrix (scales on skin)

INHERITANCE OF ‘Y’-LINKED GENES :

 The genes present in the differential region of Y chromosomes are called “Holandric
genes” (Holos-whole; andros-male) . The Y linked genes inherit directly male to male (father to
son) not to female (daughter).
Eg: Hypertrichosis in man
Ichthyosis (scales on body )
Hypertrichosis leads to development of excessive hairs in the pinna of ear .

INHERITANCE OF X –LINKED GENES :

• The genes are present in ‘X’ chromosome’s differential region . It represented

twice in female (XX) and once in male (XY).
• The colour blindness is a sex linked character discovered by Wilson in 1911 .
It is a hereditary disease , affected person cannot distinguish red colour (protonopia) and
green colour ( deuteronopia).
• Colour blindness is governed by recessive gene/character . The recessive genes
present the proper development of colour sensitive cells in the retina.
• The genes for colour blindness located in X-chromosome and absent in Y-
chromosome.

GENETICAL NATURE:
• Some portion of X and Y chromosomes are identical having homologous genes
called homologous regions, remaining region of X and Y chromosomes have different
types of genes called Non-homologous or differential regions.
• During meiosis pairing and crossing over occurs only in homologous regions of X
and Y chromosomes. So genes present in this region do not inherit along with their genes
due to crossing over. Such genes are called partially or incompletely sex linked genes.
• The genes reside in differential or non-homologous regions of X and Y
chromosomes always inherit together. Because of the differential regions of X and, they
do not undergo crossing over. Such genes are called completely sex linked genes.

The completely sex linked genes may be of the following types:

1.Holandric genes:
• The genes which remain confined to differential region of Y chromosomes only
are called holandric genes or Y-linked genes . The Y-linked genes inherit along with ‘Y’-
chromosome and they phenotypically express only in male sex .

2.Sex linked genes :

• The genes which present in the differential region of X-chromosome only are called sex
linked (or) x-linked genes.
• The phenomenon of inheritance of Y-linked and X-linked genes is called sex-linkage.
• The characters controlled by the genes located on sex chromosome (other than sex
characters ) are called sex linked characters.
• Sex linked inheritance was first discovered by T.H.Morgan in 1910 in drosophila eye
colour .
• Male has only one gene on ‘X’ chromosome for colour blindness, presence of the gene
for a character is called Hemizygous.
• This character is common in male but rare in female .
• Colour blindness character follows typical pattern of inheritance from father to grand son
and it appears only in alternate generations. This is called criss-cross inheritance.
• This character is never transmitted from father to son.
• The female carrying one recessive gene (XCXc ) is called carrier.
• The carriers are normal in their vision.
 Similar pattern of criss-cross inheritance was observed in haemophilia in man and
eye colour in drosophila.

Example 2:
HAEMOPHILIA (Bleeder’s disease):
• Discovered by John Cotto (1803). This disease is characterized by delayed blood
clotting due to the absence of anti-haemophilic globulin which plays major role in blood
clotting.
• In Normal person blood clots within 2 – 8 minutes , whereas in haemophilia person
the clotting is delayed ( 20 min – 24 hours).
• This ‘X’ linked recessive gene appeared as mutant in Queen Victoria and transmitted
to her decendants. This disease is common in Royal families of England and Russia. This
disease is also called as Royal disease.
Example 3 :
Similar inheritance of X linked recessive gene was observed in Drosophila for eye colour.

Red (normal) female (XWXW)

Red (carrier) female (XWXw)
Red (normal) male (XWY)
White male (XwY)

SEX-LIMITED GENES:

Sex limited genes express characters in only one sex. The genes may be located on any
chromosome. Their expression in vertebrate is governed by the sex hormones .
Eg 1: In man the beard is produced by sex limited gene. Woman normally donot have
beared inspite of presence of beared gene .
Eg 2: Milk production in cattle
Eg 3: plumage pattern in fowl

In domestic leghorn fowl, male have long curved , fingered feathers on tail and neck(cock
feathered). Female are shorter , straighter, without fringe (hen feathered).

H-(dominant) allele –Hen feathering

h -(recessive ) allele –Cock
But their expression influenced by sex hormone,

GENOTYPE MALE FEMALE

HH Hen feathered Hen feathered
Hh Hen feathered Hen feathered
Hh Cock feathered Hen feathered

SEX INFLUENCED GENES

• The sex influenced gens are influenced by the bearer. They are located on
autosomes. The sex influenced genes express more frequently in one sex than in other
• Eg:baldness in man
• This character dominant in man and recessive in women
• Heterozygous (Bb) the females are normal inspite of presence of dominant allele
• and express in male. In male gene for baldness can operate in presence of male
harmone

GENOTYPE PHENOTYPE
MALE FEMALE
BB bald Bald
Bb bald Normal
Bb normal normal

Eg: horned condition sheep

 UNIT-III

LINKAGE

Definition:
Genetic marker located on the same chromosome thus tend to remain together
during sexual reproduction . That is they do not exhibit independent assortment. Such
genetic marker are said to be linked, and the phenomenon, or transmission pattern, of
linked genes is called Linkage.
Genetic markers are said to be linked whenever over 50% of the gametes
produced contain Parental combinations of the markers and the less than 50% of the
gamets contain recombinant combinations of the markers. There are rare cases when
genes located on different chromosomes exhibit linkage and fairly common cases when
genes located on the same chromosome assort independently.
The effect of linkage were first evident in the results of a dihybrid cross in sweet
peas that were reported by W. Bateson and R.C. Punnett in 1906. However they did not
interpret their esults in erms of the behavior of genes located on the same chromosome.
T.H. Morgan was the first to relate linkage to the segregation of homologous
chromosomes and the occurrence of crossing over between homologous chromosomes
during meiosis. Many of our current concepts about linkage , crossing over and
chromosome mapping have evolved from the work of Morgan and his students C.B.
Bridges, H.J. Muller and A.H. Sturtevant.

ARRANGEMENT OF LI NKED GENES

1.Coupling phase
The two dominant or recessive genes are coming from same parent enter in to the
same gamete and inherit together for many generations called coupling phase linkage. In
this case two dominant genes located on one chromosome of homologous pair and two
recessive genes located in other pair of homologous chromosome. This type of
arrangement is called cis arrangement.

2.Repulsion phase:
The dominant or recessive genes coming from two parent tend to separate each
other and enters in to the different gametes called repulsion phase linkage. In this case
one dominant and recessive genes located on same chromosome of homologous pair.This
type of arrangement is called trans arrangement.
 The term coupling and repulson was coined by Bateson and punnett(1906).

Example: Sweet pea →Blue (B)>Red(b)

Pollen shape→long type (L)>round type (l)

Coupling phase:
Blue long type X Red round
The F1 resulted is Blue long type and then the test cross resulted in 7:1:1:7 with
more of parental type.
The blue long type is crossed with red long resulted in blue long in F1.The F1 is test
crossed with recessive parent it produces possible recombination and resulted in 1:7:7:1
with more of parental type.

FACTORS AFFECTING THE LINKAGE

1. Distance between the genes:
Closely linked genes shows strong linkage while genes widely located shows
deep linkage.
2. The factors like age, high temp, X-ray treatment decrease the strength of the linkage.

Linkage group
The genes or loci on one chromosome comprise a linkage group. One linkage
group corresponds to a pair of homologous chromosomes. The number of linkage group
corresponds to a number of pairs of chromosomes in a species.
S
Syntenic
The genes on the same chromosome whether they show linkage or not they are
called as syntenic groups.

Recombination:
Recombination is production of gene combination which are found in the parents.
It is produced by:
(1) Assortment of Non-homologous chromosome.
(2) By crossing over between homologous chromosomes during meiosis.

For linked genes the frequency of recombination can be used to estimate the
genetic map distance. The frequency of recombination between two loci is
between 0-0.5. It depends on how closely the loci are linked to each other on the
chromosome.

CROSSING OVER
Definition:
It is a process by which the party of homologous chromosomes are
interchanged and crossing over takes space during prophase-1 of meiosis(tetrad stage).
The cross-shaped structure in which the two of the four chromatid of homologous
chromosomes were appear to exchange the parts.it is detached in cytological studies of
meiosis in many organisms.These cross-shaped structures were first detected in
amphibians by F-janssens and these structures are called chiasmate.

Features of crossing over

  The losi of genes on a chromosome are arranged in a linear sequence.
 The two alleles of a gene in a heterozygote occupy corresponding positions in
homologous chromosomes.
 Crossing over involves the breakage of each of two homologous chromosome and
exchange of parts takes place.
 Chromosome with recombinant combinations of linked genes are formed by the
occurance of crossing over in the region between the two loci.
 The probability that crossing over will occur between the two loci increases with
increasing distance b/w the two loci on the chromosomes.

Experiments on crossing over

1.Stern’s experiment -Drosophila

2.Creightons Mc clintock experiment - Maize
1.Stern’s experiment:Stern’s experiment is on cytological basis of crossing over. Stern
crossed a female with 2x chromosomes and the 2x chromosomes are morphologically
distinguishable. 1X chromosome was having a short segment of Y chromosome attached
to it.

The other ‘X’chromosome was a sort chromosome in which the segment has been
translocated to chromosome four.

Observed results:
Stern observed
1. Round carnation eyes with normal length chromosomes.
2. Round shaped red eyes with short ‘x’chromosome with attached
‘y’segment. Stern observe males with round carnation, normal length ‘x’
chromosome and males with car shaped red eyes with short ‘x’chromosome
along with the attached ‘y’ segment.
POSTREPLICATION TETRAD STAGE

Proof that crossing over occurs after duplication of chromosomes. This proof can
be obtained by studying the fungi of the class known a. Ascomycetes bread mould
Neurospora crassa has been particular importance in genetics studies.In most organisms
such as drosophila a maize one cannot recover and analyse the genotypes of all four
haploid products of single meiotic event.
One has to perform test cross. But in case of Neurospora crassa, one can abe to
isolate x determine the genotypes of all four products of meiotic events. The data from
cross in which the genotypes of all the products of meiosis have been determined re
called tetrad data.
Asexual reproduction occurs by mitotic division of haploid cells to form spores
called conidia. Hyphal fussion can also occur between mycelia. If the fussion occurs
between cells with nuclei are genetically identical. The resulting cells are called
Homokaryons. If the nuclei are of two different genotypes the resulting cells are
Heterokaryons.
Neurospora crassa undergoes sexual and asexual reproduction. During sexual
reproduction the products of meiosis are maintained in a tube like structure called as
Ascus. Each ascus contains four pairs of ascospores, with each pair being identical twins.
 An analysis of tetrad data in which pair of allele of two genes located at same
chromosomes shows that crossing over occurs after replication in the four strand or tetrad
stage. If the crossing over occurs prior to replication that is two strand all the products of
meiotic event would have recombinant gametes.

Before Chromosome Replication

If the crossing over occurs after replication in the tetrad stage, only two of the
four products of each meiotic division will be recombinant. The other two products will
have parental combinations.

.
The results of analysis of four pairs of ascospores in neurospora crassa clearly indicates
that crossing over occues after replication because 50% of recombinant ascospores and
50% parental ascospores.

Different types of crossing over (No.of strands involving)

The double crossing over can occur in three different ways.
1. The two strand double crossing over
2. Three two strand double crossing over
3. Four two strand double crossing over

1. The two strand double crossing over

It occurs when both crossovers involve the same two chromatids.

2. The three strand double crossing over

Crossovers are those in which the second crossover involves one of the same two
chromatids as the first crossover plus one different chromatid. Three strand double
crossovers can occur in twice as many as two strand or four strand crossovers.

3. The two strand double crossing over

It occur when the second crossover involves the two chromatids not involved in
the first crossover.
GENE MAPPING OR LINKAGE MAP

The F1 double heterozygotes produced over 50 % of g amets in parental

combination and less than 50 % of gamets contain recombinant. This result is contrast to
the prediction of independent assortment. The recombination of linked genes produced by
crossing over.
Linkage groups- each linkage group corresponding to one of the pairs of
homologous chromosomes in the genoma of that species.
Example:Drosophila melanagester-4 linkage groups corresponding to 4 pairs of
chromosome.
Maize-10 linkage groups (2n=20)
Mouse-20linkage groups (2n=40)

An important features of all linkage maps is their linearity, all genes in given linkage
group can be shown to map in a linear array.

TWO POINT CROSS

Recombinant combination of alleles of two linked genes are produced by crossing
over in the nterval between the segregating loci. The rational behind the genetic mapping
is hat the probability of a crossover occurring between two loci is a function of the length
of the interval separating the loci.
A.H. Sturtevant suggested that frequency of recombinant gametes produced be
used as an index of the distance between two loci on a chromosome.

Linkage Map
A linear or circular that shows the relative position of genes on a chromosome as
determined by genetic analysis.
1map unit = 1 percent recombination

Example :
Long wing / Gray body x Short wing / Black body

P1 = Vg+ b+ vg b

↓
F1 = Vg+ Vg b+ b (Longwing graybody)

F2 = Long wing – 415

Short black – 405
Short gray - 92
Long black - 88

Recombinant frequency = 180/ 1000

= 0.18
Percentage of C.O = 18 or 18 cM
Genes vg (short wing) and b (black body) in Drosophila yield 18 % recombinant
test cross progeny. So both the genes are placed 18 map units apart on linkage group.
Therefore, the linkage map distance by the frequencies of crossing over or recombinant
chromosome produced during meiosis.

Property of additivity:
The P & Q are linked with 8 map units and P & R are linked and are 3 map units
apart.

P----3cM---------R----------------------------------Q
----------------------8cM-----------------------------

0r

R----3cM---------P-----------------8cM--------------------------------Q

---------------------------------11cM------------------------------------

The maximum crossover frequency that can be result from cross over between
linked genes is 50%.

THREE POINT CROSS:

A cross in which three pairs of alleles are segregating. It is used to detect double
crossover which is not recognized in two point cross. It also used to detect the order of
genes on the chromosome.
In this experiment first homozygous are crossed to produce triple heterozygous or
trihybrids (ABC/abc) then the trihybrid are test crossed to homozygous recessive
(abc/abc). If there is no linkage it produce 1:1:1:1:1:1:1:1.

Example:
Three point cross in Drosophila melanagaster.
Cu/cu+ = Curled versus straight wings
e/e+ = Ebony versus gray body
st/st+ = Scarlet versus red eyes.

P1 = cu e st (curled,ebony& scarlet) X cu+ e+ st+ (straight,gray&red)

(homozygous) (homozygous)

↓
F1 = cu+ cu e+ e st+ st X cu e st/cu e st
(heterozygous) (homozygous)
F2 =

Genotypes No. of progeny

Cu e st+/ cu e st 366
Cu+ e+ st / cu e st 380
Cu e st / cu e st 24
Cu+ e+ st+ / cu e st 30
Cu+ e st / cu e st 89
Cu e+ st+ / cu e st 105
Cu e+ st / cu e st 2
Cu+ e st+ / cu e st 4
Total 1000

Determining order of the genes

By little practice you will order the three gene loci by simply looking at the
parentel and double crossover genotypes. Based on observed double crossover the middle
gene can be identified from three possible gene order. In this case the middle gene is
cu/cu+ the order is st-cu-e.

Calculating between st & cu

The recombinant genotypes are st cu & st+ cu+

Distance between } = ( Single crossover Double crossover )

st & cu Frequencies + frequencies
------------------------------------------------ X 100
Total

= (24 + 30 + 2 + 4)
-------------------- X 100 = 6 mapunits
1000

Distance between } = ( Single crossover Double crossover )

cu & e Frequencies + frequencies
------------------------------------------------ X 100
Total

= (89 + 105 + 2 + 4)
--------------------- X 100 = 20 mapunits
1000

st------------------cu----------------------------------------------------------e
6cM 20cM
Interference :
Fewer double crossovers are observed than expected crossovers, if the crossovers
are independent then the phenomenon is called chromosome interference or chiasma
interference. This was first observed by A.H. Muller (1916). The degree of interference is
measured by the coefficient of coincidence (cc).

Coefficient of coincidence = Observed double crossover frequency

--------------------------------------------
Expected double crossover frequency
The coefficient of coincidence is 1 indicates no interference. If the coefficient of
coincidence value between 0-1 indicates positive interference. So the interference is the
occurrence of one crossover reduces the occurrence of another crossover nearby.

CC + interference = 1

Example:

Observed double crossover frequency = 0.005

Expected double crossover frequency = 0.015

0.005
CC = ------ = 0.33
0.015

Interference = 1- 0.33 = 0.67

In certain microorganism (bacteriophage) coefficient of coincidence is greater

than 1 thus indicates that the occurrence of one crossover increases the likelihood of
additional crossover occurring nearby. This type of interference is called Negative
interference.
 SOMATIC CELL HYBRIDIZATION A

SOMATIC CELL HYBRIDIZATION was first demonst

colleagues in 1960 ,in mouse cells. Somatic cell are diplo
cells of an organism .

SOMATIC CELL HYBRIDIZATION is fusion of somat

vitro. Cell fusion produces binucleate hybrid cells (hetero
nuclear fusion to produce uninucleate hybrid cells called
spontaneous cell fusion frequency is very low (1 cell fusi
frequency of cell fusion can be increased by addition of
1)uv inactivated sondai virus
2) by using the chemical polyethylene glycol .
3)by using electro fusion
These agents stimulate cell fusion by increa
altering cell membranes
Example
Human karyotype

Denver adopted a system for classifying and i

The 22 pairs of autosomes were numbered in descending
according to the position of the centromere as metacentri
acrocentric chromosome.

Denver report Description

1)group 1-3 Large chro
median cen
-