LINKAGE

(d) Linked genes can be separated by crossing over.

Crossing over :- exchange of genes between non -
sister chromatids of homologous chromosomes.
 LINKAGE

A a A a
Crossing
Link-
over
age
B b b B
 LINKAGE

A a A a
Crossing
Link-
over
age
B b b B

Strength of 1 1
linkage Crossing over Distance between linked
(Recombination) genes
 LINKAGE
A a A a
B b
Distance Distance
D d
Crossing over Crossing over

Low Recombination High Recombination

Linkage Linkage

Tightly Linked genes Loosely Linked genes

 LINKAGE
Factors Crossing over linkage
Distance
Euchromatin
Heterochromatin
Age

Female XX
Sex
Male XY
 LINKAGE
Arrangement of linked genes

Cis/Coupling Trans/Repulsion
++ +b
ab a+

A a A a
B b b B
 LINKAGE
Types of linkage

Complete linkage Incomplete linkage

 COMPLETE LINKAGE
(1) Complete linkage :- Parental cell
 Very rare A a
B b
 In this linkage crossing over does not
occur between the genes
 linkage :- 100% Crossing over
 Crossing over :- 0% absent

 New combination :- 0 % A a
B b Non - parental
 Parental combination :- 100% gametes = 0%
E.g. :- Genes in male Drosophila and Gametes Par. Par.
female Silkworm
 COMPLETE LINKAGE
A dihybrid with two completely linked genes behaves just like monohybrid .
 COMPLETE LINKAGE
Question:- Genotype of plant is
+ + r e in ++re
d g++ d g++
which all 4 genes show complete linkage .
Write down genotype of gametes produce
D d
by this plant ? G g
r R
e E

Gametes :-
1. D G r e
2. d g R E
 COMPLETE LINKAGE
Question:- Genotype of plant is RrTtDd in
which all R and T genes show complete linkage
R r
with cis- arrangement, and D gene is present
T t D d
on non-homologous chromosome. Write down
genotype of gametes produce by this plant ?
D = RTD
RT
d = RTd
D = rtD
rt
d = rtd
 INCOMPLETE LINKAGE
(2) Incomplete linkage :-
 Most common type of linkage.
 In this linkage crossing over occur between
the genes.
 So new combinations are formed but parental
combinations are greater than new
combinations.
 INCOMPLETE LINKAGE
A a Parental cell A a

B b B b
Parental Recombinant
type > type
After S-phase

A A a a A A a a

B B b b B B b b

A A a a A A a a
B b B b B B b b
Gametes Par. New New Par. Par. Par. Par. Par.
 INCOMPLETE LINKAGE
 Maximum frequency of recombination is 50%.
 It happens when crossing over occurs in all
cells between the genes under study.
 INCOMPLETE LINKAGE
Question :- Genotype of plant is
+ + in
ab ++
which genes show 20% recombination. ab
A a
Find out percentage of gametes which B b

contains ‘+b’ genotype?

AB = 40 %
Parental
80% ab = 40 %

Ab = 10 %
Recombinant
20% aB = 10 %

+b = 10 %
 INCOMPLETE LINKAGE
Question :- Genotype of plant is
+ r in
d+ +r
which genes show 30% recombination. D d d+
Find out percentage of gametes which r R

contains ‘++’ genotype?

Dr = 35 %
Parental
70% dR = 35 %

DR = 15 %
Recombinant
30% dr = 15 %

++ = 15 %
 CHROMOSOMAL MAP / GENETIC MAP / LINKAGE MAP
 First prepared by :- Alfred Sturtevant
 It is diagrammatic representation of sequence
(order) of linked genes present on same
chromosomes.
 It is based on results of test cross.
 It gives two information :-
a) Sequence of linked genes on the
chromosome.
b) Distance between the linked genes.
 CHROMOSOMAL MAP / GENETIC MAP / LINKAGE MAP
Recombination No. of recombinant offsprings
frequency = Total no. of offsprings
X 100

% of Recombination(C.O.) Distance

 1 % recombination = 1 map unit distance (1mu)

or
1 centi Morgan (1cM)
 CHROMOSOMAL MAP / GENETIC MAP / LINKAGE MAP
Question :- There are three genes a, b, c.
Percentage of crossing over between a and b is
a-b = 20 cM
20%, c and b is 28% and a and c is 8%. What is the c-b = 28cM
sequence of genes on chromosome? a-c = 8 cM
(1) b, a, c
(2) a, b, c
(3) a, c, b 8 cM 20cM
(4) c, b, a
c a b
28 cM

Ans. = c, a, b or b, a, c
Ans. = 1
 CHROMOSOMAL MAP / GENETIC MAP / LINKAGE MAP
Question :- The recombination frequency between
linked genes are :-
DC = 25 %
DB =35 %
AD = 40 % 15
BC = 10 %
5 10 25
AC = 15 %
AB = 5 % A B C D
What is the sequence of genes on
chromosome?
40

Ans. = ABCD or DCBA

 CHROMOSOMAL MAP / GENETIC MAP / LINKAGE MAP
Question :- Result of test cross in Drosophila is :-
++/ab = 41
Recombinant progeny :- 18
ab/ab = 41 Total progeny :- 100
+b/ab = 9
Reco. % = 18 X 100 = 18 %
a+/ab = 9 100
Find out :- Distance = 18 cM
(1) % of recombination (Cis configuration
(2) Distance between linked genes and Coupling)
(3) Cis / Trans configuration
(4) Coupling / Repulsion
 CHROMOSOMAL MAP / GENETIC MAP / LINKAGE MAP
Question :- Result of test cross in a plant is :-
++/ab = 202
Recombinant progeny :- 400
ab/ab = 198 Total progeny :- 2000
+b/ab = 798
% Reco. = 400 X 100 = 20 %
a+/ab = 802 2000

Find out :- Distance = 20 cM

(1) % of recombination (Trans configuration
(2) Distance between linked genes and Repulsion)
(3) Cis / Trans configuration
(4) Coupling / Repulsion
 LINKAGE GROUP
Linkage Group :- Genes present on a chromosome or
pair of homologous chromosomes form one linkage group.
No. of No. of pairs of No. of chromosome
= homologous chromosomes or
Linkage Group present in a haploid cell
 LINKAGE GROUP
No. of No. of pairs of No. of chromosomes
Linkage = homologous or present in a
Group chromosomes haploid cell

In garden pea = 2n = 14
Pairs = 7
Haploid cell n = 7
Linkage Groups = 7
 LINKAGE GROUP

Organism 2n n Linkage group

Pea 14 7 7

Drosophila 8 4 4

Onion 16 8 8

Female 46 23 23
Human
Male 46 23 24
Bacteria 1
 LINKAGE GROUP
Transfer of genes from one linkage group to
another linkage group is called translocation.

A a

Translocation

1st linkage 2nd linkage

group group
 MORGAN’S EXPERIMENT
Brown  y+ (wild)
1st Character :- Body Colour
Yellow  y (mutant)
Cross A
Red  w+ (wild)
2nd Character :- Eye Colour
White  w (mutant)
Cross B
Normal m+ (wild)
3rd Character :- Wing size
Miniature  m (mutant)

 Genes for all these characters are located on X-chromosome in

Drosophila melanogaster.
 MORGAN’S EXPERIMENT
Cross A Cross B

Wing
Body Eye
size
Colour Colour
X chromosome
of Drosophila

y w m
In F2 progeny:
Parental :- 98.7 % 62.8 %

Recombinant :- 1.3 % 37.2 %

 MORGAN’S EXPERIMENT

Parental

Gametes

F1 generation
F1 gen. X X X

F2 gen.
 MORGAN’S EXPERIMENT

Parents

F1 gen.
F2 gen.
 SEX LINKAGE
 Genes that are located on sex chromosome are
called sex linked genes and their inheritance is
called sex linked inheritance.
 Sex linkage was discovered by Morgan.
 He studied eye colour of Drosophila and
performed reciprocal and test cross and found that
gene of eye colour is located on X chromosome.
Eye colour of Drosophila

Red White
Xw+ or X+ Xw
 SEX LINKAGE
Genotype :- X+ ,Xw

+
X+ X+ = Homozygous red eyed X+ Y = Hemizygous red eyed

X+ Xw = Heterozygous red eyed Xw Y = Hemizygous white eyed

Xw Xw = Homozygous white eyed

 SEX LINKAGE
Question :- A heterozygous red eyed
female Drosophila, is crossed with +
Heterozygous Hemizygous
hemizygous red eyed male Drosophila.
red eyed red eyed
Find out percentage of females having red
eyes? X+ Xw X+ Y

% of Red eyed female = 2 X 100 = 100 %

X+ Y
2
X+ X+ X+ Y
% of Red eyed male = 1 X 100 = 50 % X+ Red eyed Red eyed
2 +
% of Red eyed offsprings = 3 X 100 = 75 % Xw X+ Xw Xw Y
Red eyed White eyed
4 +
 SEX LINKAGE IN HUMAN
Non – H
Homologous Non -
region of X G Homologous
chromosome K
F region of Y
J chromosome
E
X- linked I
D
genes Homologous Y- linked
C C genes
Region of X Y
B chromosome B
A A Uniparental
XY - linked
genes
Y Present only in male
X – Holandric gene
 SEX LINKAGE IN HUMAN
XY – linked genes :-
Genes present on homologous region of X and Y chromosomes.
Show biparental inheritance. (inherited from both the parents)
 SEX LINKAGE IN HUMAN
Y – linked genes :-
Genes present on non homologous region of Y chromosomes.
 Show uniparental inheritance (inherited only from father).
Present only in male (Holandric gene). K
J
Ex :-
I
1- SRY (Sex determining region on Y- Chr.) gene /
TDF (Testis determining factor) gene :- C Y- linked
B genes or
 Synthesises a protein- TDF.
holandric
A
2- Hypertrichosis – Excessive hairs on ear pinna. genes

3- Porcupine skin – Rough skin. Y

 SEX LINKAGE IN HUMAN
X – linked genes :-
Genes present on non-homologous region of X chromosomes.
Show biparental inheritance (from both the parents).
Two types

X – linked Recessive X – linked Dominant

 SEX LINKAGE IN HUMAN
(1) X – linked Recessive( XR )
a) Haemophilia H
b) Colourblindness G
X-
F linked K
c) Glucose -6- phosphate J
dehydrogenase deficiency (G6PD) E genes
I
D
d) DMD (Duchenne muscular dystrophy)
Due to non- synthesis of dystrophin protein. C C Y- linked
XY-
Gene for dystrophin synthesis is largest gene of B B genes or
linked
human ( 2.4 million base pairs). holandric
A genes A
genes
e) Diabetes insipidus
X Y
 SEX LINKAGE IN HUMAN
(2) X – linked Dominant ( XD )
a) Pseudorickets ( Vitamin D resistant rickets)
b) Defective enamel of teeth.
 HAEMOPHILIA
Haemophilia
 X- linked (sex – linked) recessive disease.
 Also called “ bleeder’s disease”.
 First discovered by John Otto.
 Blood clotting time is delayed due to the
absence of some blood clotting factor and
person dies due to excessive bleeding.
 Deficiency of clotting factors is because of
mutation in some genes of X chromosome.

Blood clotting Normal person :-1 – 8 min.

time
Haemophilic person :- 30 min. – 24 hr.
 HAEMOPHILIA
Three types of haemophilia
(1) Haemophilia – A :-
 Most common type of haemophilia.

 It is Royal disease :-

First seen in royal family of England/ Queen Victoria family.

She was carrier (X+ Xh ) of this disease.

 Due to absence of blood clotting factor – VIII.

This factor also called Antihaemophilic Globulin (AHG).

 HAEMOPHILIA
(2) Haemophilia – B / Christmas disease :-
 Rare .
 Due to absence of blood clotting factor – IX.
This factor also called - Christmas factor
or Plasma Thromboplastin Component (PTC).

(3) Haemophilia – C (it is not X- linked) :-

 It is Autosomal recessive disease
Very rare.
 Due to absence of blood clotting factor – XI.
This factor also called -
Plasma Thromboplastin Antecedent (PTA).
 HAEMOPHILIA
Genotype :- Haemophilia

X+ Xh
Normal Haemophilic

+
X+ X+ = Normal X+ Y = Normal
X+ Xh = Normal but carrier Xh Y = Haemophilic

Xh Xh = Haemophilic
Dies during
embryonic stage
 COLOUR BLINDNESS
Colourblindness :-
 X- linked (sex – linked) recessive disease.
 Discovered by Horner.
 Colourblind person is unable to differentiate
some basic colours like red and green due to
defect in cone cells.
 This defect is due to certain genes present on the
‘X’ chromosomes.
 Colour blindness is checked by :- Ishihara chart.
Type of colour blindness :-
1) Protanopia – Red colourblindness
2) Deuteranopia – Green colourblindness
 Colour blindness is detected with the help of
Ishihara cards.
 COLOUR BLINDNESS
X+ Xc
Mutation
Wild Allele Mutant Allele
Normal vision Colourblind vision

+
X+ X+ = Normal X+ Y = Normal
X+ Xc = Normal but carrier Xc Y = Colourblind

Xc Xc = Colourblind
Case of = 1 X 100 = 33.3 % Case of = 1 X 100 = 50 %
Colourblind 3 Colourblind 2
 COLOUR BLINDNESS
 It is not a lethal disease, so found in both
males and females.
 This disease is more common in males due to
hemizygous condition.
 It occurs in about 8% of males and about
0.4% of females.
 COLOUR BLINDNESS
If father is normal then all
daughters should be normal
Colourblind X Normal
If mother is colour blind
XcXc X+Y
then all sons should be
colour blind .
Xc X+ Y

X+Xc XcY
Normal
Colourblind
(Carrier)
Son
Daughter