脑梗死患者5,10-亚甲基四氢叶酸还原酶基因位点多态性的研究

Genetic polymorphisms of 5,10-methylenetetrahydrofolate reductase (MTHFR) in patients with cerebral infarction

目的 研究脑梗死患者同型半胱氨酸代谢相关酶亚甲基四氢叶酸还原酶两个常见位点的突变。方法 选取年龄、性别匹配的病例组 6 1人 ,对照组 86人 ,采用聚合酶链反应 限制片段长度多态性技术进行基因分型。结果 C6 77T位点突变中T等位基因在病例组的分布明显高于对照组 ;A12 98C位点突变中C等位基因的频率在两组间差异无显著性意义 ;具有 3个突变等位基因的杂合子 6 77TT 12 98AC在两组间分布差异有显著性意义。结论 发现C6 77T与A12 98C突变都与脑梗死的发生有关 ,尤其当两个突变叠加产生 6 77TT 12 98AC表型时 ,这种相关性更加明显。

Objective To study whether polymorphism of MTHFR is associated with susceptibility of human stroke.Methods Whole blood samples from 61 patients and 86 controls matched for age and sex were obtained.The genotype was determined by PCR RFLP protocol.Results For cases and controls C677T allele frequencies were 59.02% and 44.19%,respectively,resulting in P=0.0170. But no difference in A1298C allele between these two groups was found.Meanwhile,combined heterozygosity for both MTHFR mutations was significantly higher in patients(P=0.0086).Conclusion C677T allele and A1298C polymorphism may be associated with stroke,and this is more significant when the 677TT/1298AC genotype is expressed.