摘要
目的 研究亚甲基四氢叶酸还原酶 (methylenetetrahydrofolate reductase,MTHFR)基因C6 77T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 6 3例深静脉血栓形成患者和 80名正常对照进行了 MTHFR基因 C6 77T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 4 1.2 7%和 4 3.75 % ;T/ T纯合子频率分别为 5 2 .38%和 36 .2 5 %。患者组突变频率较高 (χ2 =6 .372 ,P<0 .0 1,ORT/T=4 .5 5 2 ,95 %可信区间 :1.4 4 0～ 14 .398;χ2 =6 .74 2 ,P =0 .0 0 9)。结论 MTHFR基因C6 77T突变与山东汉族人群深静脉血栓形成有相关性。
Objective: To study the prevalence of methylenetetrahydrofolate reductase (MTHFR) C677T genotype and its association with deep vein 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 (X2= 6. 372, P T/T=4. 552, 95% confidence interval: 1. 440 - 14. 390, X2 = 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.
出处
《中华医学遗传学杂志》
EI
CAS
CSCD
2002年第4期295-297,共3页
Chinese Journal of Medical Genetics
