亚甲基四氢叶酸还原酶基因C677T突变与山东汉族人群深静脉血栓形成的相关性

目的 研究亚甲基四氢叶酸还原酶（methylenetetrahydrofolate reductase,MTHFR）基因C677T突变与中国人深静脉血栓形成的关系。方法 采用聚合酶链反应－限制性片段长度多态性方法对山东汉族63例深静脉血栓形成患者和80名正常对照进行了MTHFR基因C677T突变检测，计算患者组与对照组的基因型频率，以及该突变与深静脉血栓形成的相关性。结果 患者组与对照组C／T杂合子频率分别为41.27%和43.75%；T／T纯合子频率分别为52.38%和36.25%。患者组突变频率较高（x^2＝6.372，P＜0.01，ORT／T＝4.552,95%可信区间：1.440-14.398;x^2=6.742,P=0.009）。结论 MTHFR基因C677T突变与山东汉族人群深静脉血栓形成有相关性。

The C677T mutation in the methylenetetrahydrofolate reductase gene and its association with deep vein thrombophilia in Shandong Hans

OBJECTIVE: To study the prevalence of methylenetetrahydrofolate reductase (MTHFR) C677T genotype and its association with deep vei n thrombophilia in Chinese. METHODS: Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis was conducted to examine mutation with 63 deep vein thrombophilic patients and 80 health controls in Shandong Hans. The genotype frequencies were calculated by gene counting in patients and controls, and an analysis was made on the association of MTHFR C677T mutation with deep venous thrombosis in Shandong Hans. RESULTS: In case- controls, the frequencies of C/T heterozygote were 41.27% and 43.75%; whereas those of T/T homozygote were 52.38% and 36.25%. Significantly elevated mutation was observed in patients(Chi-square=6.372, P 0.01 OR(T/T)=4.552 95% confidence interval:1.440-14.390, Chi-square =6.742 P=0.009). CONCLUSION: The C677T mutation of methylenetetrahydrofolate reductase gene is a risk factor associated with deep vein thrombophilia in Shandong Hans.