title: Tay-Sachs disease: a pilot screening program for the detection of the heterozygote in the Charleston Jewish community.
abstract: A pilot screening program for the detection of the carrier (heterozygote) of the Tay-Sachs disease (TSD) gene has recently been completed at the Medical University of South Carolina. A fluorometric assay for serum hexosaminidase A and B was performed on the serum of 181 individuals from the Charleston Jewish community. One hundred seventy-six of these individuals were classified as normal based on the percent hexosaminidase A (Hex A) in their serum; five persons were classified as carriers of the Tay-Sachs gene, including a young married couple who were later referred for genetic counseling.
mesh_terms: D005787:Gene Frequency; D006579:Heterozygote; D006596:Hexosaminidases / Q000097:blood; D006801:Humans; D007585:Jews; D008064:Lipidoses / Q000201:enzymology / Q000453:epidemiology* / Q000235:genetics; D008403:Mass Screening; D013022:South Carolina
chemical_list: D006596:Hexosaminidases