X-linked recessive traits:
Icthyosis - is a family of rare genetic skin disorders
characterized by dry, thickened, scaly skin. An
enzyme deficiency blocks removal of cholesterol
from skin cells. The upper skin layer cannot peel off
as it normally does, and appears brown and scaly.
Colorblindness or color vision deficiency - is the
inability or decreased ability to see color, or
perceive color differences, under normal lighting
conditions. The most usual cause is a fault in the
development of one or more sets of retinal cones
that perceive color in light and transmit that
information to the optic nerve.
Hemophilia - refers to a group of bleeding disorders
in which it takes a long time for the blood to clot
due to the specific deficiency in clotting factors.
Hemophilia is much more common in males than
females because males are hemizygous.
Icthyosis vulgaris (arm)
Lamellar Icthyosis (legs)
X-Linked Dominant Inheritance
Dominant X-linked conditions and traits are rare.
Again, gene expression differs between the sexes.
A female who inherits a dominant X-linked allele or
in whom the mutation originates has the
associated trait or illness, but a male who inherits
the allele is usually severely affected because he
has no other allele to mask its effect.
Criteria for an X-Linked Dominant Trait:
1. Expressed in females in one copy
2. Much more severe effects in males
3. High rates of miscarriage due to early lethality in
males
4. Passed from male to all daughters but not to
sons
Congenital generalized hypertrichosis - many extra
hair follicles are produced, hence denser and more
abundant upper body hair.
Incontinentia pigmenti - in affected females, swirls
of skin pigment arise when melanin penetrates the
deeper skin layers.
Sex-Limited Traits
• A sex-limited trait affects a structure or function
of the body that is present in only males or only
females. The gene for such a trait may be X-linked
or autosomal.
• In humans, beard growth is sex-limited. A woman
does not grow a beard because she does not
manufacture the hormones required for facial hair
growth. She can, however, pass to her sons the
genes specifying heavy beard growth.
Sex-Influenced Traits
• In a sex-influenced trait, an allele is dominant in
one sex but recessive in the other. Such a gene may
be X-linked or autosomal. The difference in
expression can be caused by hormonal differences
between the sexes.
• An autosomal gene for hair growth pattern has
two alleles, one that produces hair all over the
head and another that causes pattern baldness.
The baldness allele is dominant in males but
recessive in females, which is why more men than
women are bald.
• A heterozygous male is bald, but a heterozygous
female is not. A bald woman is homozygous
recessive. Even a bald woman tends to have some
wisps of hair, whereas an affected male may be
completely hairless on the top of his head.
X Inactivation
 Females have two alleles for every gene on
the X chromosomes, whereas males have only one.
In mammals, a mechanism called X inactivation
balances this apparent inequality in the expression
of genes on the X chromosome.

 • By the time a female mammalian embryo
consists of 8 cells, about 75 percent of the genes on
one X chromosome in each cell are inactivated, and
the remaining 25 percent are expressed to different
degrees in different females. Which X chromosome
is mostly turned off in each cell—the one inherited
from the mother or the one from the father—is
usually random.

 As a result, a female mammal expresses the

X chromosome genes inherited from her father in
some cells and those from her mother in others.
She is a mosaic for expression of most genes on the
X chromosome.