Sex Linkage

Sex Linkage
Sex Determination
• Chromosomes in diploid organisms occur as matching or homologous chromosomes.
• Sex is determined by the chromosomes.
Two types of chromosomes:

1) Autosomes (22 pairs)
2) Sex chromosomes (1 pair)
Autosomes
Carry information about the general body cells and their biochemistry
Sex chromosomes
• X and Y
• Carry information about the sex of the individual
In mammals:
Female Male
 Two large X  One X
chromosomes chromosome,
 All eggs one much
contain an X smaller Y
chromosome chromosome
 Homogametic  Half of his
sperm each
contain an X
chromosome,
and the other
half each
contain a Y
chromosome
 Heterogametic
X Y
chromosom chromosom
e e
 Big  Small
 Over 150 million base pairs  23 million base pairs
 Estimates for no. of  78 protein-coding genes
protein-coding genes:  Mainly carries male sex
around 800 to 1200 information
 Codes for all the female  Includes crucial SRY gene
characteristics (sex-determining region Y)
 Carries other genes coding It starts the development of the
for traits including: testes, which then make male
 Clotting factors in the hormones to produce a male
blood fetus
 Ability to distinguish
between certain colors
There is enough similarity between the X and Y chromosomes to allow them to pair up during cell
division.
Sex Linkage
Genes carried on the X chromosome said to be sex-linked.
Recessive or mutant alleles on the X chromosome passed
from a female parent to her male offspring will be expressed
in the phenotype because there is no corresponding allele on
the Y chromosome.
• Sex linkage was first discovered in Drosophila by Thomas

Morgan in the beginning of the 20th century.
In Drosophila, eye color is sex-linked and is the result of
multiple alleles.
• Most common: red which is inherited through a dominant
allele on the X chromosome.
• There is a wide range of mutant alleles resulting in flies
with different eye colors, including white, apricot, and
purple.
Sex Linkage in Humans
In people, as in most organisms, few characteristics are
the result of single genes.
Almost every aspect of your phenotype results from

interactions between variants of multiple genes,
together with transcription factors and epigenetics.
Studying the inheritance of some single human genes are

especially helpful in understanding some of the
more common inherited diseases that affect people
around the world.
Sex-Linked
Diseases
 A mother always donates an X chromosome to her sons.
 The father always donates the Y chromosome.
 Any mutations in a gene on the X chromosome will affect the phenotype of the offspring, even if
the characteristic it codes for is recessive.
 This is because the Y chromosome is small and carries only genes which code for traits associated
with maleness.
Sex linkage in humans leads to a variety of conditions known as sex-linked diseases, which may be minor
or life-threatening.
Red-green color
blindness
Sex-linked
diseases
Haemoph
ilia
Red-Green Color
Blindness
Human color vision is the result of three different types of
light sensitive cell found in the retina of the eye.
The ability to see in color is the result of multiple genes

coding for different aspects of the process.
 Many of these genes are found on the X chromosome.
 Mutations in these genes can affect the ability to see in
color, causing different types of color blindness such as
red-green color blindness.
 It is caused by a recessive mutation of a gene in the X
chromosome.
About the Disease
• More common in
People affected still men than in
see red and green woman
colors but  7-8 % of males
experience difficulty  < than 1%of
in distinguishing females
different tones of
color.
Haemophil
ia
• Much more severe sex-linked trait in which one of the

proteins needed for blood to clot is not present
• The components of the blood clotting process are
coded for by multiple genes.
 Many of these genes are carried on the X chromosome,
so problems with blood clotting are often sex-linked
diseases.
About the Disease
Most common: haemophilia A (aka factor VIII deficiency)
 Sex-linked condition in which clotting factor VIII is missing
Severity varies but can be fatal if left untreated.

 The homozygous form is rare but very severe, so most female fetuses
that are affected will not survive birth.
 In an untreated male, the slightest injury can lead to death through
excessive bleeding (even exercise can result in internal bleeding of
joints)
Symptoms of the Disease
A A C
Bleeding in the head and
B
Pain, swelling or
sometimes in the brain
tightness in joints
which can cause long
term problems, such as
seizures and paralysis
B D
Blood in your urine or
Nosebleeds without C stool
a known cause
D
Treatment
Now: recombinant (genetically

engineered) bacteria produce
In the past: pure factor VIII in large quantities
• Regular treatment with pure
human factor VIII made by
bacteria has given people with
haemophilia an almost normal
Factor VIII life expectancy and life quality.
Blood transfusions extracted from
donated blood
It is essential to diagnose and treat people with the disease as soon after birth as
possible- or even before birth.
Thank
you!

Sex Linkage

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Sex Linkage

Two types of chromosomes:

• Sex linkage was first discovered in Drosophila by Thomas

Almost every aspect of your phenotype results from

Studying the inheritance of some single human genes are

The ability to see in color is the result of multiple genes

• Much more severe sex-linked trait in which one of the

Severity varies but can be fatal if left untreated.

Now: recombinant (genetically

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