FV Leiden突变检测方法的建立及在哈萨克族人群中的初步应用  

Establishment and preliminary application in detection of FV Leiden mutation in Kazak nationality

作　　者：邢颜超[1] 马爱华[2] 程维兴[1] 王文利[3] 陈红[1] 孔江 王冬梅[1] 崔希嘏[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830000 [2]新疆医科大学基础医学院生物学教研室,新疆乌鲁木齐830054 [3]新疆武警总队医院口腔科,新疆乌鲁木齐830000

出　　处：《西北国防医学杂志》2001年第4期338-340,共3页Medical Journal of National Defending Forces in Northwest China

摘　　要：目的 :建立FVLeiden突变的检测方法 ,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FVLei den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 ,没有发现突变纯合子。哈萨克族人群FVLeiden突变的发生率为 3.5 % ,和汉族人群存在明显差异。结论 :中国新疆地区哈萨克族人群中存在FVLeiden基因突变 ,而受检测组汉族人群中未见到该类型突变 ,FVLeiden突变可能不是新疆地区汉族人群静脉血栓 (VT)发病的主要危险因素。Objective:To set up a method for detection of FV Leiden mutation and to study the prevalence of factor V Leiden mutation in healthy residents of Kazak nationality in Xinjiang district.Methods:By using the polymerase chain reaction(PCR)and restriction enzyme analysis,183 normal residents(Han,n=98;Kazak,n=85)were involved in the study.Results:3 cases of heterozygote for FV Leiden mutation(FV Arg 506 →Gln)were detected in Kazak residents,while there was no mutation in Han subjects.N0 mutant homozygote was found.The incidence of FV Leiden mutation in the Kazak residents was 3.5%, which was significantly different from that of Han subjects.Conclusion:FV Leiden mutation is present in Kazak nationality,but there is no mutation in Han subjects.It may not be a main risk factor in pathogenesis of VT in Han residents in Xinjiang. There may be the plausible pathogenic divergence in venous thrombosis among different nationality.

关 键 词：基因突变 FV LEIDEN 静脉血栓 杂合子 抗活化蛋白C现象 哈萨克族 

分 类 号：R394.5[医药卫生—医学遗传学]