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Classification of Genetic Disorders
Classification of Genetic Disorders
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A single gene disorder is the result of a single mutated gene. There are estimated to be over 4000
human diseases caused by single gene defects. Single gene disorders can be passed on to
subsequent generations in several ways. Genomic imprinting and uniparental disomy, however,
may affect inheritance patterns. The divisions between recessive and dominant types are not
"hard and fast" although the divisions between autosomal and X-linked types are (since the latter
types are distinguished purely based on the chromosomal location of the gene). For example,
achondroplasia is typically considered a dominant disorder, but children with two genes for
achondroplasia have a severe skeletal disorder that achondroplasics could be viewed as carriers
of. Sickle-cell anemia is also considered a recessive condition, but heterozygous carriers have
increased immunity to malaria in early childhood, which could be described as a related
dominant condition. When a couple where one partner or both are sufferers or carriers of a single
gene disorder and wish to have a child they can do so through IVF which means they can then
have PGD (Pre-Implantation Genetic Diagnosis) to check whether the fertilized egg has had the
genetic disorder passed on.
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AUTOSOMAL DOMINANT.
AUTOSOMAL RECESSIVE.
X- LINKED RECESSIVE.
X-LINKED DOMINANT.
5. Y-LINKED
1. AUTOSOMAL DOMINANT
Main article: Autosomal dominant#Autosomal dominant gene
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.
There is a 50% chance that a child will inherit the mutated gene. Conditions that are
autosomal dominant often have low penetrance, which means that although only one
mutated copy is needed, a relatively small proportion of those who inherit that mutation
go on to develop the disease.
Examples of this type of disorder are Huntington's disease, Neurofibromatosis 1, Marfan
Syndrome, Hereditary nonpolyposis colorectal cancer, and Hereditary multiple exostoses,
which is a highly penetrate autosomal dominant disorder. Birth defects are also called
congenital anomalies.
2. AUTOSOMAL RECESSIVE
Main article: Autosomal dominant#Autosomal recessive allele
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 who each carry one copy of the mutated gene have a 25% chance
with each pregnancy of having a child affected by the disorder.
Examples of this type of disorder are cystic fibrosis, sickle-cell disease (also partial
sickle-cell disease), Tay-Sachs disease, Niemann-Pick disease, spinal muscular atrophy,
Roberts Syndrome, and Dry (otherwise known as "rice-brand") earwax.[5]
3. X-linked dominant
4. X-LINKED RECESSIVE
5. Y-linked
Y-linked disorders are caused by mutations on the Y chromosome. Because males inherit
a Y chromosome from their fathers, every son of an affected father will be affected.
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Genetic disorders may also be complex, multifactorial or polygenic, this means that they
are likely associated with the effects of multiple genes in combination with lifestyle and
environmental factors.
Multifactoral disorders include heart disease and diabetes. Although complex disorders
often cluster in families, they do not have a clear-cut pattern of inheritance. This makes it