Linkage

Mandel’s principle of dominance, segregation of gametes still holds good in many

genetic experiments. But latter the principle of independent assortment was found to be
applicable for those genes which are located in separate chromosomes.

The first expression to the principle of independent assortment came by Bateson and
Punnett(1906),when they found two pairs of alleles in sweet pea(Lathyrus Odoratus) didn’t
assort independently,according to Bateson and Punnet genes for different character if
located in the same chromosome then they may inherit(move) together for few generation
without being assort(separated) independently.Such genes are called “linked genes” and the
phenomenon is called as linkage.

In this experiment on crossing between two varieties of sweet pea one with blue flower and
long pollen grain(BBLL) and other with red flower and round pollen grains(bbll),in all F 1 generation
plants were produced with blue flowers and long pollens(BbLl).It means blue flowers colour and
long pollen grain character are dominant character.When these F 1 hybrids were crossed with double
recessive parent(bbll),the ratio came7:1:1:7 inspite of normal test cross ratio i.e 1:1:1:1.

This phenotypic frequency of F2 offsprings are as follows:-

Phenotypic Gene combination Actual observed Expected in

combinatiom percentage independent
assortment

Blue & long Parental 43.7%-7 25%-1 50%

Blue & round Recombinant 6.3%-1 25%-1 0%

Red & long Recombinant 6.3%-1 25%-1 0%

Red & round Parental 43.7%-7 25%-1 50%

From the above experiment it is clear that the frequency of parental combination was 7
times greater that the non-parental combination.

Morgan’s view on Linkage-

According to Morgan coupling and repulsion aren’t two different things but the two
different aspects of a same phenomenon called linkage.Linkage is the tendency of the genes
of a same chromosome to remain linked with each other and not a chromosome and not to
separate.The genes which are present in a chromosome are called linked genes.In an
organism the linked genes are present to form some linkage groups.In each species the
number of linkage groups is equal to the number of haploid number of chromosomes in that
particular species.
Ex-In human number of linkage group is =23

In drosophila number of linkage group is=4

Chromosomal Theory of Linkage-

This theory was proposed by Morgan and Castle.The theory reveals the following facts:-

 In a chromosome all the genes are arranged in a linear fashion.

 All the genes in a chromosome are linked with each other and they always try to
enter into a same gamet and tend to inherit together into the next generation.
 Strength of linkage depends upon the distance between the linked genes when the
distance between the linked genes is less the strength is more and vice versa
 Linkage genes show cis and trans arrangement.
 Linkage may be complete or incomplete.

Types of Linkage

1.Complete linkage

2.Incomplete Linkage

Complete linkage

Complete linkage is a rare phenomenon only observed in some male insects . Ex-
Drosophila. Genes showing complete linkage are closely located in some chromosome &
they don’t produce non-parental combination. In complete linkage two or more characters
are inherited together and consistently appear in two or more generation in their original
combinations.

Ex-Genes for grey body & long wings in male Drosophila show complete linkage.

Incomplete linkage-

Incomplete linkage is seen when breakage takes places in homologoces chromosomal

part takes place which results recombination of genes. Such a linkage of genes called
incomplete linkage.

Ex-Incomplete linkage seen in female drosophila & in maize plant.

In 1916, Hutchinson crossed maize plant of two verities i.e one with colour & full seed
(CCSS) & the other with colourless & shreenken seed (CC&&). He found all F 1 hybirds were
result with coloured & full seed character (CCS&). When he crossed these F 1 hybrids with
double recessive parent(Test cross). He found four types of phenotypes in F 2 generation.
Among that four types parental paenotype frequency was 96.4% & non-[arental phenotype
frequency was 3.6%.
Crossing over-

Complete linkage is a very rare phenomenon because at least few genes of

chromosome have the tendency to separate during meiosis which cause recombination of
genes.This occurs due to the interchange of chromosomal part between two homologous
chromosome called crossing over.

It is defined as the interchange of corresponding chromosomal part between two non

sister chromatids of two homologous chromosomes at the time of pairing,resulting in
recombination of genes .

Mechanism of crossing over-

Explanation of crossing over by

Graphical representation:-

Types of crossing over-

1.Single crossing over

If there is a single chiasma between chromosomes of the homologous pair,it is called

single crossing over.

2.Double crossing over

If two chiasmata are between two homologous pair called double crossing over.

Two,three or four chromatids may involve in this process.When the two same non
sister chromatids cross over twice,it is called regressive or two strand exchange.When all
the four chromatids of a pair cross over to form two chiasmata,it is called four strand
exchange or degressive crossing over.When a common chromatids cross over with two
other chromatids it is called three strand exchange or progressive crossing over.

3.Multiple crossing over

In this type three,four or more chiasmata are formed during crossing over but it is a
rare phenomenon.

Frequency of crossing over

The frequency of crossing over directly proportional to the distance between the
alleles on the chromosome.The percentage of crossing over is high if the distance between
genes is more and vice-versa.

Factors affecting crossing over-

1.Age:-At older age the rate of crossing over increases.

2.Sex:-Crossing over is less frequent in male insects & male mammals.

3.Radiation:-The radiation like x-ray increases the frequency of crossing over.

4.Centromere:-Crossing over frequency is less near the centomere & at the ends of
chromosomes.

5.Temperature:-Very high & very low temperature increases the rate of crossing over.

6.Inversion:-Inversion of a segment of chromosome supress crossing over.

7.Ions:-Certain ions like Ca2+,Mg2+ decreases the frequency of crossing over.

Significance of crossing over

Crossing over has a great significance in genetics.It provides direct evidence for linear
arrangement of genes in a chromosome.It is a source of genetic variation which is essential
for variation.Improvement of crops & livestocks can be made by the knowledge of crossing
over.Undesirable traits can be eliminated through the process of crossing over.

Bar bodies:-

Scientist Murray barr discovered a dark staining body in the nerve cell of female cat &
named this sex chromatin.He couldn’t detect this chromatin in the nerve cell of male
cat.Later in 1960 Barr & his co-workers observed similar chromatin body inside the oral &
veginal epithelial cell of human female.This structure were named barr bodies after Murray
barr.

Later research revealed that the barr body is an inert X-chromosome of the
female.that is why human females are called sex chromatin positive & human males are sex
chromatin negative.Barr bodies are significant in the determination of sex of the foetus.In
turner’s syndrome there is no barr bodies & Klinefelter’s syndrome there is extra barr
bodies.

Sex determination

Sex is an aggregation of morphological,physiological & behavioural characters which

differentiate individuals of a group into males & females.Several theories have been
prposed to explain the mechanism of sex determination.Some important accepted theories
are as follows:-

1.Chromosomal theory

2.Genic balance theory

3.Hormonal theory

4.Sex determination by environmental factor

5.Parthenogenesis
Chromosomal theory

Carl Correns(1906) proposed the chromosomal theory of sex determination.According

to this theory one of the sexes produce two types of gamet & each type gamet determining
a different sex on fertilization.In most of the animals including human the females are
homogametic while the male produce two different types of gamet & called
hetrogametic.That is why the theory is also called as theory of heterogamesis.The following
are some type or patterns of sex determination by chromosomes.

A.XX Females & YY Male Type

In Drosophila,human & most of animal sex determination occurs by this method.In

Drosophila there are 4 pairs of chromosome.where male contains XY sex chromosomes &
female contain XX chromosomes.When the gamet of male containing X chromosome
fertilize with any of the gamet of female,a female offspring result.But when the gamet of
male containing Y chromosome fertilize with any gamet of the female,a male offspring will
result.The frequency of male & female offspring production is 50% & 50% respectively.From
the above representation it was cleared that when the gamet of male which contain Y
chromosome fertilize with any gamet of female then only a male child will born.

B.XX Female & XO Male Type

This is a sex determination mostly observed in insects(e.g-grasshoper).In grasshopper

the males aren’t having Y sex chromosomes & their karyotype is represented as
AA+XO.When the gamet of male containing A+X karyotype fertilize with any gamet of
female then a female offspring will produced.But when the gamet of male containg
karyotype A+O fertilize with any gamet of female than a male offspring will result.The
chances of production of male & female is 1:1

C.ZW Female & ZZ Male Type

In birds,butterflies & some fishes,female are heterogametic but males are

homogametic.Tn this type of sex determination female produce two dissimilar gamets
where as male produce similar gamets.Just to avoid confusion ZW & ZZ sex chromosomes
are taken for female & male respectively.The mechanism is just reverse of XX female XY
male type.When the gamet of female containing Z sex chromosome fertilize with any gamet
of male then a male offspring will result,but when the gamet of female W sex chromosome
fertilize with any gamet of male then a female offspring will result.

Genic balance theory

C.B Bridge(1922)proposed the genic balance theory.After observing several

intermediate variety(inter sex) between males & females.According to this theory in
Drosophila sex is determined by the ratio of number of X-chromosome,the number of st of
autosomes.In other words.it is a ratio between two types of genes of X-chromosomes &
autosomese.
This ratio is calles sex index ratio.If the ratio comes 1 then the individual is female & if it is
0.5 resulting offspring is a male & if the ratio is between 0.5-1,then the individual neither a
male nor a female but an inter sex.When the ratio comes 1.5 the offspring is a super females
& when it is 0.33 the offspring is a super male.This theory suggest that the autosomes also
play important role in determining the sex of the offspring.

SL No. No. of X- No. of set of Sex index ratio Phenotype &

chromosomes autosomes sex

1 XX AA 2/2=1 Normal female

XXX AAA 3/3=1 Normal triploid

female

XXXX AAAA 4/4=1 Normal

tetraploid
female

2 XX AAA 2/3=0.67 Inter sex

3 XY AA ½=0.5 Normal diploid

male

4 XY AAA 1/3=0.33 Super male

5 XXX AA 3/2=1.5 Super female

In the above sites sex determination process Y-chromosome has no role in determining sex.

Hormonal theory

Although sex of an organism is determined by chromocome but sex hormones play

significant roli in the differentiation of the sex.Sex hormones developes sexual character in
an individual body.It is generally known thing that removal of ovaries in a female stop
development of breast & onset of menstrual cycle.Similarly,when the testes are removed
males fail to develop male secondary sexual characters.

Crew reported an experiment where he removed ovaries in an old hen & found that
the hen transformed to a cock,with the development of combs & outer male sexual
characters.He also observed the cock which was transformed by a hen produced liable
sperms & attempted mating with other female hens.From his experiment Cree explained
that,in every female bird there is a rudiment testis which become functional after removal
of ovary & produce male sex hormone for appearance of male sex character.This was the
reason why the hen changed to a cock.

In cattle twins of the same sex develops normally when twin calves of opposite sex are
born the development of female calf is not normal.When twin of two different sex are
present in mother body,the gonads in male develops erlier than the gonads of
female.During this condition the male gonad starts to secrete male sex hormone,which also
reach the female foetus & cause growth of few male character on that female foetus.This
type of abnormal female calf is actually a sterile inter sex,with the external genital organ of
male but sterile gonads of female is called a freemartin.

Sex determination by environmental factors:-

Baltzer observed that a marine worm called Bonellia exhibit remarkable sexual
diamorphism.The females are large where as the males are microscopic & live permanent in
the uterus of female.After fertilization the egg develop into sexually undifferenciated
larval.Thoses larval who comes in contact with proboscis of female & then enter into the
reproductive tract of the female,normally develops into males.But when larval swim freely
in a water environment which is free from mature females,then the larval develops as
normal female.On the other hand if the larval first attaches with proboscis but later escapes
into water develops intp inter sexes.

This experiment of this species contain similar genotype,but the environment provide
the stimulus necessary to bring male or female genes into expression.

In crocodiles & sea turtles sex determination is affected by environmental

temperature.In crocodiles lower incubation temperature i.e. + 28oC & higher incubation
temperature i.e 34o + 0.5oC produces females & males repectively.In sea turtles it is just
opposite.The incubation temperature 34 o+ 0.5oC & 28o+0.5oC produces females & males
respectively.

Sex Linked Inheritance

The sex chromosome carry genes which determine the sex of the offspring.X & Y
chromosomes are the two heterologus chromosomes,but still some part of X-chromosomes
are similar to each other.The genes which are located on the non-homologus part of X-
chromosome are called X-linked genes & sex linked genes & the inheritance pattern called
as ex linked inheritance.Similarly,the genes which are present in the non-homologus part of
Y-chromosome are called Y-linked genes or holandric genes & their inheritance is called Y-
linked inheritance.

In order to understand inheritance of X-linked/sex linked inheritance you have to

know the transmission X-chromosome in Drosophila.

Sex linkage in Drosophila:-

Sex linkage was first discovered by Morgan(1910) while working on Drosophila

Morgan observed a sudden appearance of only one white eyed male Drosophila in the
culture of red eyed Drosophila.He matted this white eyed male with red eyed female &
found all the F1 offsprings were result with red eyed phenotype,whether they are males or
females.He concluded that red eyed colour is a dominant phenotype over the white eye
colour.
 When these F 1 Drosophila were matted freely(self cross),in F2 generation the offspring
resulted with 3:1 ratio,but surprisingly all white eyed Drosophila were males.In F 2
generation some red eyed male Drosophila were also resulted.The ratio between red eyed
male & white eyed was 1:1 but all the females were red eyed.

From the above experiment Morgan concluded that the gene for eye colour is located
on X-chromosome & follow criss-cross inheritance.A female with white eye colour appear
only when it is homozygous for that recesive gene,but in heterozygous condition females
are red eyed.In males a single recessive gene in X-chromosome express the character
because there is no any dominant allele in Y-chromosome to make in recessive & prevent its
expression.This condition of genes in male is called hemizygous condition.