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X-Linked Inheritance

X-linked inheritance refers to traits or disorders caused by genes located on the X chromosome. Males only have one X chromosome while females have two, so X-linked traits can manifest differently in males and females. X-linked inheritance can be either dominant or recessive. Examples of X-linked dominant disorders include vitamin D resistant rickets and fragile X syndrome. Examples of X-linked recessive disorders include red-green color blindness and hemophilia A.

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Rochelle Joy Cruz
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185 views23 pages

X-Linked Inheritance

X-linked inheritance refers to traits or disorders caused by genes located on the X chromosome. Males only have one X chromosome while females have two, so X-linked traits can manifest differently in males and females. X-linked inheritance can be either dominant or recessive. Examples of X-linked dominant disorders include vitamin D resistant rickets and fragile X syndrome. Examples of X-linked recessive disorders include red-green color blindness and hemophilia A.

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Rochelle Joy Cruz
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© © All Rights Reserved
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X-LINKED

INHERITANCE
GROUP 7
What is X-linked inheritance?
X-linked inheritance means that the gene causing the
trait or the disorder is located on the X chromosome.
• Females have two X chromosomes
• Males have an X and Y, respectively. Genes can be
recessive or dominant on the X chromosome.
• Their expression in females and males is not the
same.
• Genes on the Y chromosome do not exactly pair up
with the genes on the X chromosome.
What is X-linked inheritance?
• Males inherit their X chromosome from their mother,
and Y chromosome from their father. So, males
don’t have the second X chromosome and they are
hemizygote for the genes on X chromosome.
• There is a characteristic inheritance pattern of the
phenotypes of the genes on X chromosome.
• Almost 500 genes are localized on X chromosome
and 70% of these genes are associated with
disease phenotypes.
What is X-linked inheritance?
• In X-linked inheritance, males can NEVER be
carriers.
• XL disorder manifests in males who are hemizygotes
(whatever the disorder is, homozygote or
heterozygote).
• Males can not inherit their X chromosome from their
father, so X-linked trait NEVER transmits from
fathers to sons.
• Pedigree shows no male-to-male transmission.
X-Linked Dominant Inheritance
• Genetic conditions associated with mutations in
genes on the X chromosome.
• A single copy of the mutation is enough to cause the
disease in both males who have one X chromosome
and females who have two X chromosomes.
Males – get their X-Chromosome from their mother
Females – get their X-Chromosome from both of
their parents
X-Linked Dominant Inheritance
• If the mother is a carrier of the mutated
gene
50% of the son or/and daughter will be
affected
50% of the son or/and daughter will be
normal
• Children of either sex have an even chance
of receiving either of their mother's two X
chromosomes, one of which contains the
defective gene in question.
X-Linked Dominant Inheritance
• If the father is a carrier of the
mutated gene
100% of his daughter will have the
disorderr, since all of his daughters will
receive one copy of his single X
chromosome.
0% of his son will have the disorder;
sons do not receive an X chromosome
from their father.
X-Linked Dominant Inheritance
• If both parents are a carrier of the
mutated gene
100% of his daughter will have the
disorder
50% of his son will have the disorder
50% of his son will be unaffected or
normal
Examples
of
X-linked Dominant
Disorders
Vitamin D resistant rickets: X-
linked hypophosphatemia
• Phosphate reabsorption
by the renal tubules is
not normal.
• It can cause bone
deformity including short
stature and genu varum
(bow-leggedness).
Fragile X Syndrome
• Genetic disorder characterized by mild-
to-moderate intellectual disability.
• The average IQ in males is under 55,
while about two thirds of females are
intellectually disabled.
• Physical features may include a long
and narrow face, large ears, flexible
fingers, and large testicles.
• Males are usually more affected than
females.
X-Linked Recessive Inheritance
• X-linked recessive genes are expressed in females
only if there are two copies of the gene (one on each
X chromosome).
• However, for males, there needs to be only one copy
of an X-linked recessive gene in order for the trait or
disorder to be expressed.
For example, a woman can carry a recessive gene
on one of the X chromosomes unknowingly, and
pass it on to a son, who will express the trait.
X-Linked Recessive Inheritance
• X-linked recessive diseases most often occur in
males. Males have only one X chromosome. A single
recessive gene on that X chromosome will cause the
disease.
• The Y chromosome is the other half of the XY gene
pair in the male. However, the Y chromosome
doesn't contain most of the genes of the X
chromosome. Because of that, it doesn't protect the
male.
X-Linked Dominant Inheritance
• In each pregnancy, if the mother is a
carrier of a certain disease (she has only
one abnormal X chromosome) and the
father is not a carrier for the disease, the
expected outcome is:
25% chance of a healthy boy
25% chance of a boy with disease
25% chance of a healthy girl
25% chance of a carrier girl without disease
X-Linked Dominant Inheritance
• If the father has the disease
and the mother is not a
carrier, the expected
outcomes are:
100% chance of a healthy boy
100% chance of a carrier girl
without disease
X-Linked Dominant Inheritance

• If both the mother and the father have the


disease, the expected outcomes are:
100% chance of the child having the disease,
whether boy or girl.
Examples
of
X-linked Recessive
Disorders
Red-green Color Blindness
• Red-green color blindness simply means that a
person cannot distinguish shades of red and green.
• Their ability to see is normal. There are no serious
complications; however, affected individuals may not
be considered for certain occupations involving
transportation or the Armed Forces.
• Males are affected more often than females,
because the gene is located on the X chromosome.
Hemophilia A
• Hemophilia A is a disorder where the
blood cannot clot properly due to a
deficiency of a clotting factor called
Factor VIII.
• This results in abnormally heavy
bleeding that will not stop, even from a
small cut.
• People with hemophilia A bruise easily
and can have internal bleeding into their
joints and muscles. Hemophilia A is seen
in one in 10,000 live male births.

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