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Sex Linked Genetic disease

Predicting the mode of inheritance


and understanding how a lethal
allele is maintained in the gene
pool
Sex Chromosomes
• Homologous pair (XX)
in the female
• Heterozygous pair
(XY) in the male
• Sex of the individual
is determined by
which chromosome is
carried by the sperm
during fertilization.
Traits that are sex-linked
• X-linked alleles are
always expressed in
males because males
have only one X
chromosome.
• If a male inherits a
recessive trait on the X
chromosome it will be
expressed.
• What about females?
Sex (X) linked Dominant Disorder
• Females receive a copy of the mutated
chromosome from either their mother or father, as
both the mother and the father pass on a copy of
the X chromosome to their daughter.
• Males receive an X chromosome from their
mother and a Y chromosome from their father.
• Males can only inherit an X linked Dominant
Disorder from his mother. If the father has an X
linked dominant mutation he will not pass it to his
sons
• Sons inherit their father’s Y chromosome and not
their X chromosome. However a father with an X
linked dominant mutation will pass the mutation to
his daughters.
Sex (X) linked recessive disorder
• Gene affected is located on the
X chromosome and the
mutation is recessive.
• If a female has a mutated copy
of the gene on one X
chromosome, but a normal
copy on the other X
chromosome it means that she
will not suffer from the disease,
however she will be known as
a carrier.
• If males inherit one copy of the
mutated X chromosome they
will develop the disease, as
they don’t have another normal
X chromosome.
Aneuploidy
• Wrong number of
chromosomes
• Usually results from the
non-disjunction (failure
to separate) of
homologous
chromosomes during
meiosis.
• Two m/c forms are
monosomy and trisomy
Aneuploidy in sex chromosomes
• Turner Syndrome • Klinefelter Syndrome
-person has only one sex – Person has an extra
chromosome (X), totally sex chromosome (X),
lacking another X or Y. having XXY.
- results from non- – Karyotype has 47
disjunction during meiosis chromosomes.
-karyotype will have only – Incidence rate is 1 in
45 chromosomes 1000 live male births
-incidence rate is 1 in with a maternal age
5000 live female births effect.
Duchenne muscular dystrophy
• Wasting of skeletal
muscle
• In the U.S., 1 out of
3000 males born with
muscular dystrophy.
• Defective gene that
codes for muscle
protein.
• MDA videos
Review
1. Why are sex-linked disorders more
common in males than in females?
2. How does nondisjunction cause
chromosome number disorders?
3. What are two types of sex-linked
disorders?