1. Tay-Sachs disease
... having the disease. If only one parent is heterozygous, the infant has a one in two chance of being a carrier (heterozygous) for the disease(Mahany et al, 1994). In 1962, researchers found B-hexosaminidase A is responsible for the breakdown of ganglioside (gm2) in nerve cells. Ganglioside is a lipid found in ... the classical (infantile) form of the disease that is found in the Ashkenazi Jewish population is caused by one of two different gene mutations( Triggs-Raine et al, 1990). The first one, Tay Sachs disease [HexA, 4-BP INS, EX11] accounts for about 70% of heterozygous carriers in th...
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- Grade Level: High School