Monogenic disorder

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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.

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

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