A novel mutation in the HEXA gene specific to Tay-Sachs disease carriers of Jewish Iraqi origin

M. Karpati, L. Peleg, E. Gazit, E. Akstein, B. Goldman

Research output: Contribution to journalArticlepeer-review


An increased frequency of carriers of 1:140, as defined by reduced hexosaminidase A (HexA) activity, was observed among Iraqi Jews participating in the Tay-Sachs disease (TSD) carrier detection program. Prior to this finding, TSD among Jews had been restricted to those of Eastern European (Ashkenazi) and Moroccan descent with carrier frequencies of 1:29 and 1:110 for Jews of Ashkenazi and Moroccan extraction, respectively. A general, pan-ethnic frequency of approximately 1:280 has been observed among other Jewish Israeli populations. Analysis of 48 DNA samples from Iraqi Jews suspected, by enzymatic assay, to be carriers revealed a total of five mutations, one of which was novel. In nine carriers (19%), a known mutation typical to either Ashkenazi or Moroccan Jews was identified. ΔF304/305 was detected in four individuals, and +1278TATC in three. G269S and R170Q each appeared in a single person. The new mutation, G749T, resulting in a substitution of glycine to valine at position 250 has been found in 19 of the DNA samples (40%). This mutation was not detected among 100 non-carrier, Iraqi Jews and 65 Ashkenazi enzymatically determined carriers. Aside from Ashkenazi and Moroccan Jews, a specific mutation in the HEXA gene has now also been identified in Jews of Iraqi descent.

Original languageEnglish
Pages (from-to)398-400
Number of pages3
JournalClinical Genetics
Issue number5
StatePublished - 2000
Externally publishedYes


  • Ethnic groups
  • Hexosaminidase
  • Pseudo-deficiency
  • Tay-Sachs


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