Segregation of Tay-Sachs and Sandhoff alleles in a non-Jewish family.
A non-Jewish family is presented in which the genes for Tay-Sachs disease and Sandhoff disease are segregating. Individuals heterozygous for both alleles have low serum and white cell total hexosaminidase levels together with a proportion of heat-labile hexosaminidase A (HEX A) which falls in the normal range. The individuals would not be detected as carriers of Tay-Sachs disease or Sandhoff disease in a population screening program.
D005188:False Negative Reactions; D005260:Female; D006580:Genetic Carrier Screening; D006596:Hexosaminidases / Q000172:deficiency / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D012497:Sandhoff Disease / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D013661:Tay-Sachs Disease / Q000150:complications / Q000201:enzymology / Q000235:genetics*
D006596:Hexosaminidases