ANTB15H3 Study Guide - Tay–Sachs Disease, Niemann–Pick Disease, Sephardi Jews

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30 Dec 2013
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Severe (especially for deaths in childhood, 4-5 years of life). Cause mutation is 80x higher and jews seek more physician care. Some extent in other groups such as: french-canadian quebec, cajun families in southwest louisiana, pennsylvania dutch. Real reasons: environmental factors, selection, cultural factors, selection, genetic factors, random genetic drift. Inborn error of metabolism: gaucher"s disease, sphenomegaly (enlarge of spleen), hepatosplenomeghaly (enlarge of spleen and liver), bone and joint pain, variable age of onset. J=1/3000: nj=very rare, gaucher (1882) saw a 32 yo woman dead with enlarged liver and spleen. And he studied the cells of the spleen: 80 genetic changes that cause gaucher"s disease have been described. Four mutations account for 50% of the patients. Only three of the genetic variants are gaucher"s type: niemann pick disease. 78 mutations: 65 single base substitutions, 1 large & 10 small deletions, 2 small insertions, one insertion, consisting of 4 bases within exon 11 is found in.

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