Article
A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.
American journal of human genetics - 1 Oct 1992
Triggs-Raine B L, Mules E H, Kaback M M, Lim-Steele J S, Dowling C E, Akerman B R, Natowicz M R, Grebner E E, Navon R, Welch J P
Abstract excerpt
Deficiency of beta-hexosaminidase A (Hex A) activity typically results in Tay-Sachs disease. However, healthy subjects found to be deficient in Hex A activity (i.e., pseudodeficient) by means of in vitro biochemical tests have been described. We analyzed the HEXA gene of one pseudodeficient subject and identified both a C739-to-T substitution that changes Arg247----Trp on one allele and a previously identified...
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