1. Tay-Sachs disease in a Moroccan Jewish family: a possible new mutation.
- Author
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Bach G, Navon R, Zeigler M, Beyth Y, Porter B, and Cohen MM
- Subjects
- Amniocentesis, Female, Fetal Diseases diagnosis, Heterozygote, Hexosaminidases analysis, Hexosaminidases blood, Humans, Isoelectric Focusing, Israel, Leukocytes enzymology, Male, Morocco ethnology, Pregnancy, Prenatal Diagnosis, Lipidoses genetics, 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.
- Published
- 1976