Lecture No.

: 13 & 14

LINKAGE

Sutton and Boveri proposed the chromosome theory of inheritance.

According to chromosome theory of inheritance, it is well established that many
genes are located in each chromosome in a linear fashion. It may therefore be
expected that all genes located in same chromosome would move to same pole
during cell division. As a consequence, such genes will fail to show independent
segregation and would tend to be inherited together. This tendency of genes to
remain together in their original combination during inheritance is called linkage.
Mendel’s law of independent assortment is applicable only when the genes are
located in different chromosomes while linkage refers to the genes located in the
same chromosome.

The phenomenon of linkage was first reported by Bateson and Punnet in

1906. They studied flower colour and pollen shape in sweet pea involving two
varieties / races.

Phases of linkage: In the two races experimented one parent has purple flowers
with long pollen grains. The other parent has red flowers and round pollen grains.
The character purple (P) is a simple monogenic dominant to red (p); while long (L)
pollen is dominant to round (l) pollen, when these two plants were crossed the F 1
(PL/pl) was purple flowered with long pollen. But in F2, the ratio of four types of
plants deviated from the normal dihybrid ratio of 9:3:3:1 expected on the principle
of independent assortment of flower colour and pollen shape.

PARENTS Purple Long x Red Round

PL/PL pI/pI

F1 Purple Long
PL/pl

F2 Purple Purple Red Red Total

long round long round

Actual numbers 4831 390 393 1338 6952

Expected numbers 3910.5 1303.5 1303.5 434.5 6952
Expected Ratio 9/16 3/16 3/16 1/16
 The plants with the character combination as in the original parents are
known as parental forms or parental combinations, i.e., (i) Plants with purple
flowers and long pollen and (ii) Plants with red flowers and round pollen. Plants
possessing one character from one parent and another character from the second
parent are known as recombined types or recombinations or new combinations or
cross-overs, i.e. (i) plants with red flowers and long pollen and (ii) plants with
purple flowers and round pollen.

From the above table the following features can be noted that in F2, there
are both parental forms and recombinations. The chief peculiarity of the results in
the above table was that parental forms are in far excess of the expected number
while the recombinations were fewer. This deviation from the expected ratio is
due to linkage of the character pairs, viz., 1. Purple flowers (P) and long pollen (L)
are linked because both the genes are located on the same chromosome.
Similarly red flowers (p) and round pollen (l) are linked together because the
genes are located in the same chromosome (which is the homologue of the
previous one). The recombinations are obtained due to crossing over between the
two concerned genes in some of the spore mother cells.

Another cross was made in sweet peas with the following combinations:

PARENTS Purple Round x Red Long

PI/PI pL/pL
Purple Long
Pl/pL

F2 Purple Purple Red Red Total

long round long round
Actual numbers 225 95 97 2 419
Expected numbers 235.7 78.5 78.5 26.2 419
Expected Ratio 9/16 3/16 3/16 1/16

Here again the parental types are more while the recombinant types are
less than expected on the basis of independent assortment, viz., 9:3:3:1. This
deviation is also due to linkage.
 In the above two examples, it can be seen that in one cross the two
dominant factors (PL) are linked in one parent and two recessive factors (pl) are
linked in the other. Linkage in such crosses is said to be in coupling phase. In the
second cross, dominant allele of one character pair (P) and the recessive allele of
another character pair (I) are linked together in one parent, while in the second
parent the other recessive (p) and dominant alleles (L) are linked. Linkage in such
crosses is said to be in repulsion phase.

Later, T H Morgan put forth the theory of linkage and concluded that coupling and
repulsion were two phases of single phenomenon, linkage.

Types of Linkage: Linkage is generally classified on the basis of three criteria

viz., (i) Crossing over, (ii) Genes involved and (iii) Chromosomes involved

(i) Based on crossing over: Linkage may be classified into (a) complete and
(b) incomplete / partial depending up on absence or presence of recombinant
phenotypes in test cross progeny.

(a) Complete linkage: It is known in case of males of Drosophila and females

of silkworms, where there is complete absence of recombinant types due to
absence of crossing over.

(b) Incomplete / partial linkage: If some frequency of crossing over also

occurs between the linked genes, it is known as incomplete / partial
linkage. Recombinant types are also observed besides parental
combinations in the test cross progeny. Incomplete linkage has been
observed in maize, p ea, Drosophila female and several other organisms.

(ii) Based on genes involved : Depending on whether all dominant or some

dominant and some recessive alleles are linked together, linkage can be
categorized into (a) Coupling phase and (b) Repulsion phase

(a) Coupling phase: All dominant alleles are present on the same
chromosome or all recessive alleles are present on same chromosome.

TR tr
----- --- Coupling phase
TR tr
 (b) Repulsion phase: Dominant alleles of some genes are linked with
recessive alleles of other genes on same chromosome.

Tr tR
----- --- Repulsion phase
Tr tR
(iii) Based on chromosomes involved: Based on the location of genes on the
chromosomes, linkage can be categorized into (a) autosomal linkage and (b)
X-chromosomal linkage / allosomal linka ge / sex linkage

(a) Autosomal linkage: It refers to linkage of those genes which are located
in autosomes (other than sex chromosomes).

(b) X-chromosomal linkage / allosomal linkage / sex linkage: It refers to

linkage of genes which are located in sex chromosomes i.e. either ‘X’ or ‘Y’
(generally ‘X’)

Characteristic features of Linkage:

1. Linkage involves two or more genes which are located in same

chromosome in a linear fashion.

2. Linkage reduces variability.

3. Linkage may involve either dominant or recessive alleles (coupling phase)

or some dominant and some recessive alleles (repulsion phase).

4. It may involve either all desirable traits or all undesirable traits or some
desirable and some undesirable traits.

5. It is observed for oligo-genic traits as well as polygenic traits.

6. Linkage usually involves those genes which are located close to each
other.

7. The strength of linkage depends on the distance between the linked genes.
Lesser the distance, higher the strength and vice versa.

8. Presence of linkage leads to higher frequency of parental types than

recombinants in test cross. When two genes are linked the segregation
ratio of dihybrid test cross progeny deviates significantly from 1:1:1:1 ratio.

9. Linkage can be determined from test cross progeny data.

 10. If crossing over does not occur, all genes located on one chromosome are
expected to be inherited together. Thus the maximum number of linkage
groups possible in an organism is equal to the haploid chromosome
number.

Eg. Onion 2n = 16 n = 8 maximum linkage groups possible = 8

Maize 2n = 20 n = 10 maximum linkage groups possible = 10

11. Linkage can be broken by repeated intermating of randomly selected plants

in segregating population for several generations or by mutagenic
treatment.

12. Besides pleiotropy, linkage is an important cause of genetic correlation

between various plant characters.

Linkage and pleiotropy: A close association between two or more characters

may result either due to linkage or pleiotropy or both. Pleiotropy refers to the
control of two or more characters by a single gene. A tight linkage between two
loci can be often confused with pleiotropy. The only way to distinguish between
linkage and pleiotropy is to find out a crossover product between linked
characters. Intermating in segregating populations may break a tight linkage, but a
huge population has to be raised to find out the crossover product. If a cross over
product is not found in spite of repeated intermatings, there seems to be the case
of pleiotropy rather than linkage.

Linkage groups : Linkage group refers to a group of genes which are present in
one chromosome. In other words, all those genes which are located in one
chromosome constitute one linkage group. The number of linkage groups is
limited in each individual. The maximum number of linka ge groups is equal to the
haploid chromosome number of an organism. For example there are ten linkage
groups in corn (2n = 20), seven in garden pea (2n = 14), seven in barley (2n =
14), four in Drosophila melanogaster (2n = 8) and 23 in man (2n = 46).

Detection of linkage: Test cross is the most common method of detecting the
linkage. In this method, the F, heterozygous at two loci (AB/ab) is crossed to a
double recessive parent (ab/ab) and the phenotypic ratio of test cross progeny is
examined. If the phenotypic ratio of test cross progeny shows 1:1:1:1 ratio of
parental and recombinant genotypes, it indicates absence of linkage. If the
frequency of parental types and recombinant types deviate significantly from the
normal dihybrid test cross ratio of 1:1:1:1, it reveals presence of linkage between
two genes under study.

Another way to detect the presence or absence of linkage is to self

pollinate the individual heterozygous at two loci. If there is complete dominance at
each locus and no epistasis, the segregation ratio of the progeny will be 9:3:3:1.
Presence of linkage either in coupling or repulsion phase will lead to significant
deviation from 9:3:3:1 ratio. The deviation of observed values from the expected
ratio is tested with the help of x2 test.

Significance of Linkage in Plant Breeding :

1. Linkage limits the variability among the individuals.

2. Linkage between two or more loci controlling different desirable characters is

advantageous for a plant breeder. A linkage between genes controlling two
different desirable characters will help in simultaneous improvement of both
the characters.

3. Linkage is undesirable when desirable and undesirable genes are linked

together.

4. The estimates of genetic variances for quantitative characters are greatly

influenced by the presence of linkage