Single gene disorder
Single Gene Disorder
Single gene disorder (pronunciation: /ˈsɪŋɡəl dʒiːn dɪsˈɔːdər/), also known as monogenic disorder, is a type of genetic disorder caused by changes or mutations in the DNA sequence of a single gene. The mutations can be inherited from one or both parents, or they can occur spontaneously at the time of conception.
Etymology
The term "single gene disorder" is derived from the fact that these disorders are caused by defects in a single gene. The term "monogenic" is derived from the Greek words "mono" meaning "one" and "genic" meaning "relating to genes".
Types of Single Gene Disorders
Single gene disorders can be classified into several types based on the way they are inherited. These include:
- Autosomal dominant disorders: These disorders occur when a mutation is present in just one copy of a gene. Examples include Huntington's disease and Marfan syndrome.
- Autosomal recessive disorders: These disorders occur when mutations are present in both copies of a gene. Examples include cystic fibrosis and sickle cell disease.
- X-linked disorders: These disorders occur when a mutation is present in a gene on the X chromosome. Examples include hemophilia and Duchenne muscular dystrophy.
Diagnosis and Treatment
The diagnosis of single gene disorders often involves genetic testing, which can identify the specific gene mutation causing the disorder. Treatment varies depending on the specific disorder and may include medication, surgery, physical therapy, and/or genetic counseling.
Related Terms
External links
- Medical encyclopedia article on Single gene disorder
- Wikipedia's article - Single gene disorder
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski