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Genetic
Diseases

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What is gene mutation?

A gene mutation is a permanent

change in the DNA sequence that
makes up a gene.
Mutations range in size from a
single DNA building block (DNA
base) to a large segment of a
chromosome.
Gene mutations occur in two
ways: they can be inherited from
a parent or acquired during a

What is a Genetic Disorder?

Agenetic disorderis
anillnesscaused by one or
moreabnormalities in the
genome, especially a condition
that is present from birth
(congenital).
Most genetic disorders are quite
rare and affect one person in
every several thousands or

Single Gene Disorder

Asingle gene disorderis
the result of a
singlemutatedgene.
Over 4000 human
diseases are caused by
single gene defects.

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.

Multifactorial and polygenic (complex) disorders

Genetic disorders may also be complex,

multifactorial, or polygenic, meaning they are
likely associated with the effects of multiple
genes in combination with lifestyles and
environmental factors.
Multifactorial disorders includeheart
diseaseanddiabetes.
Although complex disorders often cluster in
families, they do not have a clear-cut pattern of
inheritance. This makes it difficult to determine
a persons risk of inheriting or passing on these
disorders.
Complex disorders are also difficult to study

Examples of multufactorial
disorders
asthma

autoimmune diseasessuch asmultiple

sclerosis
cancers
ciliopathies
cleft palate
diabetes
heart disease
hypertension
inflammatory bowel disease
intellectual disability
mood disorder
obesity
refractive error

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.