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Diseases » Alport Syndrome » Inheritance
 

Inheritance and Genetics of Alport Syndrome

Genetics of Alport Syndrome:

Alport syndrome is an inherited genetic disease.

Alport Syndrome: Genetics Information

Genetics of Alport Syndrome: It is now known that most cases of AS are caused by a mutation in the collagen gene COL4A5. This gene encodes for the alpha-5 chain of collagen type IV and is located on the X chromosome. Because women have two X chromosomes (XX), affected women usually have one normal copy and one abnormal copy of the gene. Men only have one copy of the X chromosome (XY). If they inherit the COL4A5 mutation, this abnormal copy of the gene is the only copy they have and the effects are more severe. (Source: Genes and Disease by the National Center for Biotechnology)

About inheritance and genetics:

Inheritance of Alport Syndrome refers to whether the condition is inherited from your parents or "runs" in families. The level of inheritance of a condition depends on how important genetics are to the disease. Strongly genetic diseases are usually inherited, partially genetic diseases are sometimes inherited, and non-genetic diseases are not inherited. For general information, see Introduction to Genetics.

 

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