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Genetic Diseases
Genetic Diseases
Genetic Diseases
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Genetic
Diseases
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Autosomal Dominant
Disorders
Only one mutated copy of the gene will be necessary for
a person to be affected by an autosomal dominant
disorder.
Each affected person usually has one affected parent.
The chance a child will inherit the mutated gene is 50%.
Autosomal dominant conditions sometimes have
reducedpenetrance, which means although only one
mutated copy is needed, not all individuals who inherit
that mutation go on to develop the disease.
Examples of this type of disorder areHuntington's
disease, neurofibromatosis type 1,neurofibromatosis
type 2,Marfan syndrome,
Autosomal
recessive
Two copies of the gene must be mutated for a person
to be affected by an autosomal recessive disorder.
An affected person usually has unaffected parents
who each carry a single copy of the mutated gene
(and are referred to as carriers).
Two unaffected people whom each carry one copy of
the mutated gene have a 25% chance of passing on
the disease.
Examples of this type of disorder are,cystic
fibrosis,sickle-cell disease,Tay-Sachs
disease,Niemann-Pick disease,spinal muscular
atrophy, andRoberts syndrome.
X-linked dominant
X-linked dominant disorders are caused by
mutations in genes on theX chromosome.
Only a few disorders have this inheritance
pattern, with a prime example beingXlinked hypophosphatemic rickets.
Males and females are both affected in
these disorders, with males typically being
more severely affected than females
X-linked recessive
X-linked recessive conditions are also caused by
mutations in genes on the X chromosome.
Males are more frequently affected than
females, and the chance of passing on the
disorder differs between men and women. The
sons of a man with an X-linked recessive disorder
will not be affected, and his daughters will carry
one copy of the mutated gene. A woman who is
a carrier of an X-linked recessive disorder has a
50% chance of having sons who are affected and
a 50% chance of having daughters who carry
one copy of the mutated gene and are therefore
carriers.
X-linked recessive conditions include the serious
Y-linked
Y-linked disorders, also called
holandric disorders, are caused by
mutations on the Y chromosome.
Y-linked disorders in humans can
only be passed from men to their
sons; females can never be affected
because they do not possess Y
allosomes.
Y-linked disorders are exceedingly
rare but the most well-known
Mitochondrial
This type of inheritance, also known
as maternal inheritance, applies to
genes inmitochondrial DNA.
Because only egg cells contribute
mitochondria to the developing
embryo, only mothers can pass on
mitochondrial conditions to their
children. An example of this type of
disorder isLeber's hereditary optic
neuropathy.
Examples of multufactorial
disorders
asthma
Treatment
Genetic disorders rarely have effective
treatments, thoughgene therapyis being
tested as a possible treatment for some
genetic diseases, including some forms
ofretinitis pigmentosa.
Gauchers diseaseis a genetic disease
affecting metabolism. It is more treatable
than most other genetic diseases, and can
be treated with enzyme replacement
therapy, medication
(miglustatandimiglucerase), and bone
marrow transplantation.