凝血因子V169G→A基因突变的研究分析  

Study and Analysis of Coagulation Factor V 1691G→A Gene Mutation

作　　者：邢颜超[1] 马爱华[2] 程维兴[1] 陈红[1] 唐艺[1] 

机构地区：[1]兰州军区乌鲁木齐总医院输血科,新疆乌鲁木齐市830000 [2]新疆医科大学基础医学院生物学教研室

出　　处：《中国微循环》2003年第3期140-142,共3页Journal of Chinese Microcirculation

摘　　要：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 prevalence of factor V (FV 1691G→A) mutation in healthy population in Xinjiang district. Methods Coagulation factor V is an important cofactor during coagulation. A single point mutation 1691G→A in the factor V gene leads resistance to the inactivation affected by APC of the anti - coagulation system and thus increases the thrombotic risk.The present study is aimed at the distribution of coagulation factor V gene mutation 1691A in population of different races.By using the polymerase chain reaction(PCR) and restriction enzyme analysis,98 cases of Han population,67 cases of Uighurs population and 54 cases of Kazak population in Xinjiang were studied. Results The mutant heterozygotes were found in 2 cases in Kazak population, while this mutation was not found in Han population and Uighurs population. Conclusions FV Leiden mutation is present in Kazak population in Xinjiang, FV Leiden mutation varied in different regions and races. FV Leiden may not be the main risk factor of VT in Xinjiang of China.

关 键 词：FVLeiden 基因突变 静脉血栓 杂合子 抗活化蛋白C现象 

分 类 号：R364.15[医药卫生—病理学] Q754[医药卫生—基础医学]