MTHFR基因多态性与脑卒中的关系

目的 :研究人体 N5 ,N1 0亚甲基四氢叶酸还原酶 ( MTHFR)的基因多态性与脑卒中的遗传相关性。方法 :采用限制性内切酶片段长度多态性方法 ( PCR- RFLP) ,对 1 1 8例脑卒中患者和1 39例健康人 MTHFR基因 C677T多态性位点进行检测。结果 :病例组 MTHFR基因 T等位基因频率为 5 0 .4%,C等位基因频率为 49.6%;对照组 T等位基因频率为 40 .6%,C等位基因频率为5 9.4%;差异有显著性 ( P<0 .0 5 )。出血性卒中 T等位基因频率为 41 .4%,C等位基因频率为5 8.6%;缺血性卒中 T等位基因频率为 5 4 .2 %,C等位基因频率为 45 .8%;无明显差异。结论 :脑卒中汉族人群 MTHFR基因 C677T突变等位基因频率与健康人群存在差异 ;出血性脑卒中患者与缺血性脑卒中患者之间 ,基因型及等位基因频率均无明显差异。表明 MTHFR基因 C677T突变位点多态性与脑卒中有相关性 ,MTHFR基因可能是脑卒中的一个易感基因

Relationship Between Methylenetetrahydrofolate Reductase (MTHFR) Gene Polymorphisms and Stroke

Objective:To study on relationship between MTHFR gene polymorphisms and stroke. Methods: 118 patients with stroke and 139 control subjects were examined and the polymorphisms of their MTHFR gene were analyzed by PCR and restriction endonuclease longth polymorphism (PCR RELP). Results: The frequencies of two alleles were as follows: T allele 50.4%,C allele 49.6% in patients and T 40.6%, C 59.4% in control group. The frequency of the T allele was higher in patients than that in normal control group ( P <0.05). The frequency of two alleles were follows: T, 41.4%; C, 58.6% in hemorrhagic stroke patients and T, 54.2%; C, 45.8% in ischemic stroke patients. There was not obvious difference. Conclusion: In Han people, the T allele of MTHFR mutation in patients with stroke was significantly more frequent than that in control group. There were no obvious differences in frequencies of their genotypes and T alletes between the two groups with stroke. These results showed that polymorphisms of MTHFR gene C677T mutation correlated with stroke, and MTHFR gene may be one of predisposing genes for stroke.