深静脉血栓形成患者MTHFR/C677T基因多态性检测

Determination of MTHFR/C677T polymorphism in deep venous thrombosis

目的 :检测深静脉血栓形成患者 5 ,1 0 -亚甲基四氢叶酸还原酶 (MTHFR)基因多态性检测。方法 :利用聚合酶链反应和限制性片段长度多态性 (PCR -RFLP)方法 ,检测了 1 0 3例深静脉血栓形成患者 (DVT组 )与 1 0 6例正常对照 (正常对照组 )的MTHFR基因 6 77碱基C -T的突变情况。结果 :DVT组与正常对照组相比 ,MTHFR基因6 77位点纯合突变基因型频率 (2 7.2 % )明显高于对照组 (1 5 .1 % ) ,P <0 .0 5 ;变异型等位基因 (T)频率为 0 .5 5 ,高于正常对照 0 .38,P <0 .0 5。结论 :提示MTHFR基因纯合突变型 (T/T)可能是深静脉血栓形成的一个遗传性风险因子 。

Aim: To assess whether MTHFR/C677T polymorphism is associated with deep venous thrombosis(DVT). Methods: We performed a case-control study to detect genotype of MTHFR/C677T in 103 samples of DVT and 106 samples of normal control with PCR-RFLP. Results: Homozygote of MTHFR between DVT group and normal control group had significant difference (27.2% vs 15.1%, P <0.05). Conclusion: It is suggested that the homozygote of MTHFR is one risk factor of DVT, which provides a new basis for exploring the relevant pathogenesis.