title: [Frequency of the Gaucher mutation among recent Russian immigrants].
abstract: Gaucher's disease is frequent in the Ashkenazi Jewish population of Israel, with a gene frequency by molecular analysis of approximately 0.032, corresponding to a birth rate of 1:850. The recent immigration from the former Soviet Union brought more than 400,000 Jews, mostly of Ashkenazi descent. However, only a few cases of Gaucher's disease have been diagnosed. Possible explanations are lack of awareness of the signs of Gaucher's disease among Russian health workers and family practitioners in Israel, and a significantly lesser frequency of the Gaucher gene among Russian immigrants than among other Ashkenazi Jews in Israel and the US. We studied the frequency of the 1226G (N370S) mutation in a cohort of 202 recent immigrants from the former Soviet Union. We found 10 carriers (4.95%), indicating a decreased frequency of the Gaucher gene, but by extension, the probability of unidentified cases in need of treatment. Family practitioners should be aware of the possibility that heretofore misdiagnosed symptoms may be those of Gaucher's disease.
authors.affiliation: Outpatient Clinic, Shaarei Zedek Medical Center, Jerusalem.
authors.forename: I
authors.initials: I
authors.lastname: Hodish
authors.forename: D
authors.initials: D
authors.lastname: Elstein
authors.forename: A
authors.initials: A
authors.lastname: Abrahamov
authors.forename: N
authors.initials: N
authors.lastname: Lonshakova
authors.forename: A
authors.initials: A
authors.lastname: Zimran
mesh_terms: D004641:Emigration and Immigration; D005776:Gaucher Disease / Q000175:diagnosis / Q000235:genetics*; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D007557:Israel; D007585:Jews / Q000235:genetics*; D009154:Mutation; D014586:USSR