哈萨克族人群中FVLeiden突变的研究

Study of Factor V Leiden Mutation in Kazak Nationality

目的 研究分析中国新疆哈萨克族健康人群中FVLeiden突变的发生率。方法 应用多聚酶链反应 限制性片段长度多态性分析 (PCR RFLP) ,对新疆地区 183例 (汉族 98例 ;哈萨克族 85例 )健康个体进行FVLeiden基因突变研究分析。结果 哈萨克族人群中检出 3例FVLeiden(FVArg50 6→Gln)突变杂合子 ;汉族人群中均无该突变类型。结论 中国新疆地区哈萨克族人群中存在FVLeiden基因突变 ,而汉族人群中未检测到该类型突变 ,FVLeiden突变可能不是中国人群静脉血栓 (VT)发病的主要危险因素。不同种族人群的VT致病的分子机制存在差异。

Objective To study the prevalence of factor V Leiden mutation in healthy Kazak nationality in Xinjiang district. Methods By using the polymerase chain reaction (PCR) and restriction enzyme analysis, 183 normal individuals (Han, n=98; Kazak, n=85) were studied. Result 3 cases of heterozygous for FV Leiden mutation (FV Arg 506 →Gln) were detected in Kazak individuals, while no this mutation in Han subjects. Conclusion FV Leiden mutation is present in Chinese, but might not be a main risk factor in pathogenesis of VT in Chinese. There may be the plausible pathogenic divergence in VT among different races.