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.
|Number of pages||8|
|Journal||Israel Journal of Medical Sciences|
|State||Published - 1 Dec 1976|
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