Genetics of Lesch-Nyhan syndrome: In LNS, there is a mutation in the HPRT1 gene located on the X chromosome. The product of the normal gene is the enzyme hypoxanthine-guanine phosphoribosyltransferase, which speeds up the recycling of purines from broken down DNA and RNA. Many different types of mutations affect this gene, and the result is a very low level of the enzyme.
The mutation is inherited in an X-linked fashion. Females who inherit one copy of the mutation are not affected because they have two copies of the X chromosome (XX). Males are severely affected because they only have one X chromosome (XY), and therefore their only copy of the HPRT1 gene is mutated. (Source: Genes and Disease by the National Center for Biotechnology)
Inheritance of Lesch-Nyhan 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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