Tay-Sachs Disease
Tay-Sachs disease is an autosomal recessive disorder. It is a mutation in the HEXA gene on the long arm of chromosome 15. It is common in the Ashkenazi-Jewish population, approximately 1:3600 births, with a carrier frequency of 1:30 (medical genetics) and a higher incidence among a number of other population groups.
The HEXA gene encodes for
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