Notes on Genetics

Sex-Linked Inheritance

Definition:
Any phenotype is said to be sex-linked if the triggering gene for that
phenotype is located on a sex chromosome. Sex- linkage is the pattern of
the allele expression and inheritance in association with the sex
chromosomes of the individuals. For example, in humans, the term sex-
linked phe notype generally refers to the characters that are influenced by
the genes that are located on either X or Y chromosomes.

Introduction
Sex-linked phenotypes were discovered in the year 1910 by Thomas Hunt
Morgan (an American geneticist) as white-eyed mutations in the “male” fruit
fly (Drosophila melanogaster). Morgan was awarded a Noble Prize in Physiology
or Medicine in 1933 for this discovery. He performed a series of experiments
on fruit flies and reported that the gene that controls the color of the eyes in
these flies is located on the X chromosome. He did a cross between a
white- eye (mutant) male with a red eye (wild-type) female fly. In the first
generation, all flies obtained were of red eye color as the white eye trait was
recessive. The next cross between F1 generation males and females produced
an F2 generation that was comprised of 3470 red eyed (both male and
female) and 782 white eyed (only male) flies (Fig. 1). Sex-linked traits or
genes are located on the sex chromosome, that is, X chromosome and Y
chromosome in humans. The genes located on the X chromosome are called
X-linked genes and, on the Y chromosome, Y-linked genes. In humans, Y-
linked genes are transmitted only by males and have genotype XY.
Contrarily, X-linked genes are transmitted by both males and females.

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 Notes on Genetics

Fig .1

Characteristic Features of the Sex- Linked Phenotypes

 Mendel’s law does not apply to those genes that are completely
located on either X or Y chromosomes.
 Sex-linked inheritance is the inheritance of traits that are determined
by the expression of genes located on the sex chromosomes.
 Sex-linked inheritance mostly occurs due to the X chromosome as
compared to the Y chromosome.
 The genes located on the X chromosome are known as diandric and on
the Y chromosome as holandric genes.
 The inheritance of X-linked genes and Y-linked genes from parents is
called sex- linked inheritance.
 The pattern of inheritance of sex linked trait is criss-cross. It is the
transmission of a gene from mother to son or father to daughter. Those
patterns of inheritance are called crisscross inheritance or skip
generation inheritance, in which a character is inherited to the second
generation through the carrier of first generation. The father cannot
pass a sex linked allele to a son directly.
 The mother can pass the allele of a trait to both daughter and son.
 Only homozygous females can express a recessive trait, while
heterozygous female are carriers and do not express the trait.

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 Notes on Genetics

 Males express the trait immediately because of the absence of a

corresponding allele. This is the reason why males suffer from sex
linked disorders more than females.
Sex-Linked Inheritance:
Two types: X-linked Inheritance, and Y linked inheritance
In humans, sex-linked disorders can be categorized into X-linked and Y-linked
disorders. X-linked disorders can be further divided into X-linked recessive
and X-linked dominant disorders.

Sex-linked inheritance is the passing of characters/alleles that are located on

either of the sex chromosomes (X and Y chromosome) from par- ents to the
progenies. Therefore, the inheritance of X-linked traits is generally from mother
to daughter, but Y-linked inheritance is from father to son only.

Colour blindness:
Colour blindness a dominant X-linked gene is necessary for the formation of
the colour sensitive cells, the cones, in the retina of eye. According to
trichromatic theory of colour vision, there are three different types of cones,
each with its characteristic pigment that react most strongly to red, green
and violet light. The recessive form of this gene (i.e., presence of recessive
X-linked allele for colour blindness) is incapable of producing the colour
sensitive cones and the homozygous recessive females (Xc Xc) and
hemizygous recessive males (Xc Y) are unable to distinguish between these
two colours.

Inheritance of Colour blindness

• A heterozygous female has normal color vision. Sons get their only X from
their mother. So, ½ of the sons of a heterozygous mother are colorblind, and
½ are normal.
• A colorblind male will give his X to his daughters only. If the mother is
homozygous normal, all of the children will be normal.
• However, the daughters will heterozygous carriers of the trait, and ½ of
their
sons will be colorblind.
A colour blindness man marries a woman of normal vision, they
have son and daughter with normal vision, If daughter marries a
normal vision person, What will be the expected vision among the
grand children?
Parent P1 Normal visioned woman × Colour blind man

C C c

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 Notes on Genetics

Genotype
XX × XY

Gametes C c

X X Y

Crossing C c C
F1 Generation XX X Y
Colour blinded carrier daughter Normal visioned son
If F1carrier daughter marries a normal vision person
C c C

X X X X Y
Carrier daughter X Normal visioned son
C c X C
Gamates
X X X Y Results
♂M C c In F1 all daughter are carriers, all
F♀ sons are normal visioned. Among
X X the grand children, 25% are
C C C C c normal grand daughters with
X X x x normal vision, 25% are carrier
X Normal Carrier daughters, 25% are normal
daughter Daughter
visioned grand sons and 25%
C c colour blinded grand sons
x Y
X Y Colour Heamophilia
Y Normal son blind
son Heamophilia is the most serious
and Sex linked Inheritance disease which is more common in men than
women. This is also known as bleeder’s disease. The person which contains
the recessive gene for hemophilia lacks in normal clotting substance
(thromboplastin) in blood so minor injuries cause continuous bleeding and
ultimate death of the person due to hemorrhages. This hereditary disease
was reported by John Cotto of Philadelphia in 1803 in man. (a) Hemophilia
A. It is characterized by lack of anti hemophilic globulin (Factor VIII). About
four fifths of the cases of hemophilic are of this type. (b) Hemophilia B. It is

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 Notes on Genetics

also called “christmas disease” after the family in which it was first
described in detail. Hemophilia B results from a defect in plasma
thromboplastic component (factor IX). This is milder form of hemophilia.

Pattern of inheritance in Haemophilia:

In man the trait for Haemophilia is recessive to normal

gene (HH). It is an sex linked disease. If haemophila girl
(hh) is marries a normal boy, What would be the
appearance of their children?
Solution:
Parent P1 Haemophilic girl × Normal gay
h h H
Genotype
X X × XY

Gametes h h H

X X X Y

♂M h h
F♀
X X
H H h H h
X X x x
Carrier Carrier
daughter Daughter
h h
x Y
X Y Haemophili
Y Haemophilic c
Son son

Results: In F2 generations, all daughters are carriers and

all sons are Haemophilic.

Sex-Linked Disorder

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 Notes on Genetics

Like Autosomes, Sex chromosomes are comprised of different genes that are
required for the normal function. Functional alteration in these genes due to
mutations leads to sex-linked disorders. Mutations in Y chromosomes (Y-linked
inheritance) are characterized by an alteration in male sexual functions and
secondary male characters. For example, Y-linked inheritance disorder is
comprised of hypertrichosis that is characterized by growth of hair at the
outside rim of the ear and Webbed toes that is characterized by web-like
connection between second and third toes. Y-linked inheritance is carried out
by the Y chromosome from father to his son only. Similarly, the mutation in
the X chromosome is defined as the X-linked inheritance. Some common sex-
linked disorders are hemophilia, red green color blindness congenital night
blindness, Duchenne muscular dystrophy, and Fragile X syndrome. In humans,
sex-linked disorders can be categorized into X-linked and Y-linked disorders. X-
linked disorders can be further divided into X-linked recessive and X-linked
dominant disorders.

X-linked recessive disorder: X-linked recessive disorder is a mode of

inheritance in which mutation in a gene located on the X
chromosome that causes the phenotype is always expressed in males and
females that are homozygous for gene mutation. The most common X-linked
recessive disorders found in humans are Hemophilia (Hemophilia A and B) and
color blindness.

X-linked dominant disorder: X-linked dominance disorder is a mode of

genetic inheritance, in which a dominant gene is carried on the X
chromosome. X-linked dominant disor der is uncommon as compared to
other Mendelian disorders, and females are mostly affected as compared to
males. Females have two X chromosomes and do not show the
transmission from father to son, and affected males are more severely
affected than females. The X-linked dominant disorder is rare as com- pared to
X-linked recessive disorder. The examples of X-linked dominant disorder are
Fragile X syndrome, oral-facial syndrome type 1, and hypophosphatemic
ricketsm .

Y-linked disorder: Mutations in the genes that are located on the

nonhomologous region of the Y chromosome and directly pass from male to
male may cause Y-linked disorder.

Sex-linked
S. no. Disorder Symptoms status
1. Color blindness The person is Due to X-

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 Notes on Genetics

not able to linked

distinguish recessive
between red or genes
green or both
color
2. Hemophilia Pain, swelling, or Due to X-
(Bleeder’s tightness in joint linked
disorder) and blood in recessive
urine or stool genes

3. Rett syndrome Leading to Due to X-

cognitive linked
impairment in dominant
female genes

4. Double-cortex Intellectual Due to X-

syndrome disability, linked
seizures, and dominant
behavioral genes
problems
5. Incontinentia Characterized by Due to X-
pigment type 1 dermatological, linked
ocular, dental, dominant
and neurological genes
abnormalities
6. Hypophosphatemia Electrolyte Due to X
disorder in which linked
there is a low dominant
level of genes
Y -Linked Inheritance
• Genes in the non-homologous region of the Y chromosome pass directly
from male to male.
• In man, the Y-linked or holandric genes are transmitted directly from
father to son Having hairy ears was once thought to be a Y-linked trait in
humans, but that hypothesis has been discredited.
• It has often been said that little is known about genes that may be Y-
linked. This is no longer true. As of the year 2012, about three dozen
genes were known to be Y-linked including:
• ASMTY (which stands for acetyl serotonin methyltransferase)
• TSPY (testis-specific protein)
• Y-Chromosome deletions are a frequent genetic cause of male infertility.
In some males a small deletion in the DAZ gene (deleted in azoosprmia)
on the Y chromosome cause azoospermia
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