Segregation within a family of two mutant alleles for hexosaminidase A.
A healthy adult female was found to have low levels of hexosaminidase A in serum, leukocytes and fibroblasts when these were assayed with artificial substrates. Fibroblast assay with GM2 ganglioside gave values consistent with a Tay-Sachs heterozygote. Studies of this non-Jewish family revealed evidence for segregation of two mutant alleles for hexosaminidase A.
D000328:Adult; D000483:Alleles; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006579:Heterozygote; D006596:Hexosaminidases / Q000097:blood*; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008064:Lipidoses / Q000201:enzymology* / Q000235:genetics; D008297:Male; D009154:Mutation; D010375:Pedigree
D006596:Hexosaminidases