High gene frequency of factor XI (PTA) deficiency in Ashkenazi Jews
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چکیده
منابع مشابه
High 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 mutation and the origin of Ashkenazi Jews.
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....
متن کاملTwo 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 prevalence of plasma thromboplastin antecedent (PTA, factor XI) deficiency.
By W. Angus Muir and Oscar D. Ratnoff P LASMA TH ROM BOPLASTIN antecedent (PTA, Factor X I) deficiency is an inherited disorder of blood coagulation characterized by a defect of the intrinsic pathway of thrombin formation and a mild to moderate bleeding tendency. Since the original description by Rosenthal, Dreskin, and Rosenthal,’ it has been reported in this country and in Europe to occur wit...
متن کاملAn unexpectedly high frequency of heterozygosity for alpha-thalassemia in Ashkenazi Jews.
alpha-Thalassemia is among the world's most common single gene disorders, which is most prevalent in the malaria belt. This geographic distribution has been attributed to a selective advantage of heterozygotes against this disease. Unexpectedly, we have found a high frequency of heterozygosity for deletional alpha-thalassemia (-alpha3.7) in Ashkenazi Jews (carrier frequency of 7.9%, allele freq...
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ژورنال
عنوان ژورنال: Blood
سال: 1978
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v51.6.1223.1223