Tay Sachs disease in a Moroccan Jewish family: a possible new mutation

G. Bach, R. Navon, M. Zeigler, Y. Beyth, B. Porter, M. M. Cohen

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


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.

Original languageEnglish
Pages (from-to)1432-1439
Number of pages8
JournalIsrael Journal of Medical Sciences
Issue number12
StatePublished - 1 Dec 1976

ASJC Scopus subject areas

  • Bioengineering


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