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目的 研究分析中国新疆地区健康人群中FV1691G→A基因突变的发生率。方法 凝血因子V(coagulation factor V)在凝血过程中是一种重要的辅因子,其基因中一个点突变1691G→A,使它对抗凝血系统中的一种血浆蛋白质C(APC)的失活作用而产生抗性,从而使血栓发生风险增大。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98例汉族、67例维吾尔族和54例哈萨克族健康个体进行研究分析。结果 哈萨克族人群中检出2例FV Leiden 1691G→A突变杂合子;汉族和维吾尔族人群中均未发现该突变类型。结论 中国新疆地区哈萨克族人群中存在FV Leiden基因突变,而汉族和维吾尔族人群中未检测到该类型突变,FV Leiden的发生存在着地区、种族差异,FV Leiden突变可能不是新疆地区人群静脉血栓(VT)发病的主要危险因素。
Objective To study the incidence of FV1691G → A gene mutation in healthy population in Xinjiang of China. Methods Coagulation factor V, an important cofactor during coagulation, has a point mutation 1691G → A in its gene that counteracts the inactivation of a plasma protein C (APC) in the coagulation system Resistant, thus increasing the risk of thrombosis. 98 cases of Han nationality, 67 Uygur nationality and 54 cases of Kazakh nationality in Xinjiang region were studied by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results Two cases of heterozygous FV Leiden 1691G → A mutation were detected in Kazakh population. No mutation was found in Han and Uygur populations. Conclusions There is FV Leiden gene mutation in Kazakh population in Xinjiang region of China, but no mutation was detected in Han and Uygur population. There are regional and ethnic differences in FV Leiden mutation. The FV Leiden mutation may not be the risk factor of venous thrombosis VT) the incidence of major risk factors.