Two common mutations causing factor XI deficiency in Ashkenazi Jews may point to a European origin.

نویسنده

  • A Zoossmann-Diskin
چکیده

Shpilberg et al’ suggest that the occurrence of type I1 mutation in the factor XI gene in both Ashkenazi and Iraqi Jews attests to its presence in Jews already 2,500 years ago. They ignore the fact that both type I1 and type III mutations, which are common in Ashkenazi Jews, are also common in northwest England.2 A Pst+ polymorphism in the HEXA gene was also found in both Ashkenazi and Scots-Irish chromosomes? A Celtic origin for all these polymorphisms is a possibility. According to the factor XI gene, Ashkenazi Jews and northwest English, who share two mutations, should be. considered more ethnically similar than Ashkenazi Jews and Iraqi Jews, who share only one. The origin of the Jewish communities is a question not yet resolved. Thus, there is no justification to assume that a mutation common to two Jewish communities has existed in Jews since ancient times. The claim that Ashkenazi Jews are descendants of Jews exiled from Israel by the Romans has not been proven historically. In fact, the origin of Ashkenazi Jews is known to us only since their appearance as Franco-German Jewry in the nineth ~entury.4.~ Shpilberg et a l l also state that “the Iraqi Jews represent the original gene pool of Jews who have lived in isolation in the Middle East since Babylonian times, 2,500 years ago.” None of these statements is substantiated. Evidence exists showing that there were very many proselytes in Babylonia.”’ Rapaportl’ and Feldmann” stress that the large Jewish population of Babylonia could only have developed as a result of a great proselytic movement. Babylonian Jews did not live in isolation. On the contrary, they were fully integrated into Babylonian society.12 The history of Babylonian Jews is not known to us since the Babylonian exile in the sixth century BC, but only since the Talmudic period, which began in the third century.” It seems that the suggestion that type I1 mutation was present in Jews already 2,500 years ago cannot be substantiated. Haplotypes can support this claim only if it is shown that the Ashkenazi and Iraqi type I1 chromosomes bear the same haplotype and that the non-Jewish type I1 chromosomes do not. Two other queries arise when one compares the findings of Shpilberg et al’ with those of Asakai et a l l 3 from 1991. Did not the discovery of an Arab patient, homozygous for the type I1 mutation, justify a survey for factor XI mutations among Arabs? Type II mutation might have been discovered as a mutation also common in other populations in the Middle East. The second query concerns the discrepancy between the two articles about the rarer mutations for factor XI deficiency in Ashkenazi Jews. Forty-three homozygous Ashkenazi probands were screened.13 No type I mutations were observed, 82 genes contained type I1 or type III mutations, 3 genes contained an unidentified mutation (type TV?), and 1 gene contained “a nonsense mutation identical to that found in a Japanese patient (Osaka-I).” In the updated survey’ among 125 Ashkenazi probands, 246 genes contained type I1 or type I11 mutations, 3 contained type I, and 1 contained type IV. What happened then to the 3 unidentified mutations and to the Osaka-I mutation? What happened to the fourth type I allele mentioned in an abstract in 1993?14 Avshalom Zoossmann-Diskin Department of Human Genetics Sackler School of Medicine Tel-Aviv Universiiy Tel-Aviv, Israel

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منابع مشابه

The two common mutations causing factor XI deficiency in Jews stem from distinct founders: one of ancient Middle Eastern origin and another of more recent European origin.

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عنوان ژورنال:
  • Blood

دوره 86 8  شماره 

صفحات  -

تاریخ انتشار 1995