静脉血栓患者和正常人凝血因子V Leiden和凝血酶原基因G20210A变异的研究

Factor V Leiden and PTG20210A gene mutation in patients with venous thrombosis and healthy blood donors

目的 了解静脉血栓患者和正常人中凝血因子VLeiden和凝血酶原基因G2 0 2 10A变异的发生率。方法 用多聚酶链反应 (PCR)及限制性内切酶分析一步法 ,对 97例静脉血栓患者和 10 0名正常人的凝血因子VLeiden(FVArg5 0 6Gln)和凝血酶原基因G2 0 2 10A变异进行分析。结果 凝血因子VLeiden基因和凝血酶原基因PCR产物( 175bp和 118bp)经TaqI酶切消化后电泳显示分别为15 7bp和 98bp片段 ,静脉血栓患者和正常人群均未发现凝血因子VLeiden和凝血酶原基因G2 0 2 10A变异。结论 我国正常人群和静脉血栓患者凝血因子VLeiden和凝血酶原基因G2 0 2 10A变异发生率低 ,可能不是人群易栓症的主要遗传性危险因素。

Objective To evaluate the incidence of factor V Leiden and prothrombin gene G20210A mutation in patients with venous thrombosis and healthy volunteers Methods Factor V Leiden and prothrombin gene G20210A mutation were analysed in 97 cases of venous thrombosis and 100 healthy volunteers with the methods of one step PCR RFLP Results PCR products for the factor V gene (175 bp) and for the prothrombin gene (118 bp) were identified to 157 bp and 98 bp fragments by electrophoresis after Taq I treatment No factor V Leiden and prothrombin gene G20210A mutation were found in either group Conclusion The low incidence of factor V Leiden and prothrombin gene G20210A mutation suggest that they are not the major genetic risk factors for thrombophilia in the Chinese