Factor XI mutation and the origin of Ashkenazi Jews.
نویسنده
چکیده
1. Zadra G, Asselta R, Tenchini ML, Castaman G, Seligsohn U, Mannucci PM, et al. Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time polymerase chain reaction to determine their prevalence in healthy and factor XI-deficient Italians. Haematologica 2008; 93:715-21. 2. Rodriguez-Mari A, Diaz-Font A, Chabas A, Pastores GM, Grinberg D, Vilageliu L. New insights into the origin of the Gaucher disease-causing mutation N370S: extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms. Blood Cells Mol Dis 2001;27:950-9. 3. Kriegel M. The beginnings of European Jewry, 500-1096. In: BarNavi E, editor. A historical atlas of the Jewish people. London: Hutchinson; 1992. p. 78-9. 4. Hendelssmann Y. The Jewish centre in Ashkenaz in the 1013th centuries. In: Shavit S, Shamir I, editors. The history of the people of Israel. Givataim, Israel: Massada; 1985. p. 72-3 (in Hebrew). 5. Eilat T. The Jewish community in pagan Rome from its beginning in times of the republic till Christianity became a recognized religion of the Roman Empire [MA dissertation]. TelAviv: Tel-Aviv University; 1979 (in Hebrew with English abstract). 6. Feldman LH. Proselytism and syncretism. In: Stern M, editor. The Diaspora in the Hellenistic-Roman world. Israel:The Society For The Publication Of The History Of The Jewish People;1983. p. 188-207 (in Hebrew). 7. Meroz N. Proselytism in the Roman Empire in the first centuries A.D. [MA dissertation]. Tel-Aviv: Tel-Aviv University; 1992 (in Hebrew with English abstract). 8. Rapaport U. Jewish religious propaganda and proselytism in the period of the second commonwealth [PhD dissertation]. Jerusalem: The Hebrew University; 1965 (in Hebrew with English abstract). 9. Bonné-Tamir B, Zoossmann-Diskin A, Ticher A, Oppenheim A, Nevo S. Genetic distance analyses in Israeli groups using classical markers and DNA polymorphisms in the ‚-globin gene. In: Roberts DF, Fujiki N, Torizuka K, editors. Isolation Migration and Health. Cambridge: Cambridge University Press; 1992. p. 87-106. 10. Zoossmann-Diskin A, Joel A, Liron M, Kerem B, Shohat M, Peleg L. Protein electrophoretic markers in Israel: compilation of data and genetic affinities. Ann Hum Biol 2002;29:142-75. 11. Zoossmann-Diskin A, Gazit E, Peleg L, Shohat M, Turner D. Thrombophilic polymorphisms in Israel. Blood Cells Mol Dis In press 2008. Haematologica online only 2008
منابع مشابه
Two common mutations causing factor XI deficiency in Ashkenazi Jews may point to a European origin.
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-Ir...
متن کاملThe 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.
Previous studies showed that factor XI (FXI) deficiency commonly observed in Ashkenazi Jews is caused by two similarly frequent mutations, type II (Glu117stop) and type III (Phe283Leu) with allele frequencies of 0.0217 and 0.0254, respectively. In Iraqi Jews, who represent the ancient gene pool of Jews, only the type II mutation was observed with an allele frequency of 0.0167. In this study we ...
متن کاملAge estimates of two common mutations causing factor XI deficiency: recent genetic drift is not necessary for elevated disease incidence among Ashkenazi Jews.
The type II and type III mutations at the FXI locus, which cause coagulation factor XI deficiency, have high frequencies in Jewish populations. The type III mutation is largely restricted to Ashkenazi Jews, but the type II mutation is observed at high frequency in both Ashkenazi and Iraqi Jews, suggesting the possibility that the mutation appeared before the separation of these communities. Her...
متن کاملHigh gene frequency of factor XI (PTA) deficiency in Ashkenazi Jews.
Factor Xi deficiency has previously been observed mainly in Jews. For 34 of 36 probands with factor XI deficiency in Israel, reliable information on ethnic background was obtained. Of 34 probands 33 were of definite Ashkenazi Jewish origin; 1 was of probable Ashkenazi origin. From a survey of factor Xi levels among 428 unrelated healthy Ashkenazi Jews, 35 had partial factor XI deficiency (facto...
متن کاملFactor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations.
Factor XI (plasma thromboplastin antecedent) deficiency is a blood coagulation abnormality occurring in high frequency in Ashkenazi Jews. Three independent point mutations that result in a blood coagulation abnormality have been identified in the factor XI gene of six unrelated Ashkenazi patients. These mutations either disrupt normal mRNA splicing (type I), cause premature polypeptide terminat...
متن کاملThe 185delAG BRCA1 mutation originated before the dispersion of Jews in the diaspora and is not limited to Ashkenazim.
The 185delAG mutation in BRCA1 is detected in Ashkenazi Jews both in familial breast and ovarian cancer and in the general population. All tested Ashkenazi mutation carriers share the same allelic pattern at the BRCA1 locus. Our previous study showed that this 'Ashkenazi' mutation also occurs in Iraqi Jews with a similar allelic pattern. We extended our analysis to other non-Ashkenazi subsets: ...
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عنوان ژورنال:
- Haematologica
دوره 93 10 شماره
صفحات -
تاریخ انتشار 2008