ANTB15H3 Final: Reading notes required for final exam
Document Summary
Author jared diamond and wife are of eastern european jewish ancestry. Tay-sachs incurable disease, preprogrammed in the genes. Infant appears normal for the first few months of birth. An exaggerated startle reaction" to sounds is the first ominous sign. At about 6 months baby starts to lose control of his head, can"t roll over or sit without support, drooling, breaks out into unmotivated bouts of laughter, convulsions, head grows abnormally large, blindness, usually dies before age 4. Worldwide: 1/400,000 births, 1/3,600 births ashkenazim (eastern european jews), oriental. Jews (middle east), sephardic jews (spain and mediterranean) frequency are the same as non- B. sachs neurologist 1887 (noted by 1896 that disease was most common among jewish children) By 1962 the cause was linked to an excessive accumulation in nerve cells of a fatty substance called gm2 ganglioside. Gm2 breakdown is via enzyme hexosaminidase a, ts victims lack this enzyme. Autosomal recessive, needs defective gene from both parents to get tsd.