作者: O Shpilberg , H Peretz , A Zivelin , R Yatuv , A Chetrit
DOI: 10.1182/BLOOD.V85.2.429.429
关键词: Factor XI 、 Nonsense mutation 、 Medicine 、 Loss of heterozygosity 、 Missense mutation 、 Mutation (genetic algorithm) 、 Genotype 、 Allele frequency 、 Ashkenazi jews 、 Genetics
摘要: In recent years four mutations causing factor XI deficiency have been identified in Jews of Ashkenazi (European) origin. Two them, type II (a nonsense mutation) and III missense mutation), were found to prevail among 125 unrelated with severe deficiency. A finding mutation Iraqi-Jewish families raised the possibility that this is also common Iraqi Jews, who represent ancient gene pool Jews. molecular-based analysis performed 1,040 consecutively hospitalized patients disclosed following results: Among 531 Ashkenazi-Jewish patients, allele frequency was 0.0217 509 0.0167 (P = .50). The 0.0254, whereas none 502 examined had mutation. These data suggest present already 2.5 millenia ago. indicate estimated risk for (due either genotype) 0.22% 0.03%, heterozygosity 9.0% 3.3%. As are prone bleeding after injury partial may similar complications when an additional hemostatic derangement present, observed high frequencies should be borne mind surgery planned individuals belonging these populations.