Monogenic disorder
Monogenic Disorder
Monogenic disorder (pronunciation: /mɒnəˈdʒɛnɪk dɪsˈɔːdər/), also known as a single-gene disorder or Mendelian disorder, is a type of genetic disorder caused by changes or mutations in a single gene. The term "monogenic" is derived from the Greek words "mono" meaning "one" and "genic" meaning "relating to genes".
Definition
A monogenic disorder is a type of genetic disorder that is caused by the mutation or alteration of a single gene. These disorders are hereditary and can be passed down from parents to their offspring. The mutation can occur in the DNA sequence of a single gene, which can result in an abnormal or non-functioning protein being produced.
Types
Monogenic disorders can be classified into three main types: autosomal dominant, autosomal recessive, and X-linked.
- Autosomal dominant disorders occur when an individual inherits a normal gene from one parent and a mutated gene from the other parent. Examples include Huntington's disease and Marfan syndrome.
- Autosomal recessive disorders occur when an individual inherits two mutated genes, one from each parent. Examples include cystic fibrosis and sickle cell anemia.
- X-linked disorders are caused by mutations in genes on the X chromosome. Examples include hemophilia and Duchenne muscular dystrophy.
Diagnosis
Diagnosis of monogenic disorders can be done through genetic testing, which involves examining the DNA to identify any genetic defects. This can be done through various methods such as DNA sequencing, polymerase chain reaction (PCR), and microarray analysis.
Treatment
Treatment for monogenic disorders varies depending on the specific disorder and its severity. Some treatments may include gene therapy, enzyme replacement therapy, and dietary restrictions.
See Also
External links
- Medical encyclopedia article on Monogenic disorder
- Wikipedia's article - Monogenic disorder
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