title: Tay-Sachs disease in a Moroccan Jewish family:  a possible new mutation.
abstract: The parents of a Jewish Moroccan family, in which a previous child had died of Tay-Sachs disease, both proved to be carriers of the mutant gene. Hexosaminidase A activity in the father was similar to that in Ashkenazic heterozygotes, while the mother showed extremely low hexosaminidase A activity in peripheral leukocytes. Amniocentesis was performed on the mother during a subsequent pregnancy; the fetus proved to be affected and the pregnancy was interrupted. Acrylamide isoelectrofocusing of fetal liver and leukocytes of additional family members revealed a variant mutation for Tay-Sachs disease.
mesh_terms: D000649:Amniocentesis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D006579:Heterozygote; D006596:Hexosaminidases / Q000032:analysis / Q000097:blood; D006801:Humans; D007525:Isoelectric Focusing; D007557:Israel; D007962:Leukocytes / Q000201:enzymology; D008064:Lipidoses / Q000235:genetics*; D008297:Male; D009018:Morocco / Q000208:ethnology; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D006596:Hexosaminidases