title: Screening for carriers of Tay-Sachs disease: A community project.
abstract: Heterozygotes for Tay-Sachs disease can be distinguished by measuring the serum hexosaminidase activity and calculating the percentage of the heat-labile (A) form. We tested 7565 Ashkenazi Jews in Metropolitan Toronto and found a carrier frequency of 0.071. This figure was similar to the predicted frequency on the basis of caseload over a five-year period. We also found that 15% of women taking oral contraceptives were false-positive carriers. As with pregnant women, these false-positive carriers could be distinguished from true carriers by assaying leukocyte hexosaminidases.
mesh_terms: D000328:Adult; D003276:Contraceptives, Oral; D003365:Costs and Cost Analysis; D005160:Facility Design and Construction; D005189:False Positive Reactions; D005260:Female; D006266:Health Education; D006579:Heterozygote; D006596:Hexosaminidases / Q000097:blood; D006358:Hot Temperature; D006801:Humans; D007585:Jews; D007962:Leukocytes / Q000032:analysis; D008064:Lipidoses / Q000517:prevention & control*; D008297:Male; D008403:Mass Screening; D008722:Methods; D009864:Ontario; D011247:Pregnancy; D014838:Volunteers
chemical_list: D003276:Contraceptives, Oral; D006596:Hexosaminidases