动脉粥样硬化性脑梗死的亚甲基四氢叶酸还原酶基因多态性研究

目的　探讨亚甲基四氢叶酸还原酶 (MTHFR)基因C6 77T多态性与动脉粥样硬化性脑梗死的关系。方法　采用聚合酶链式反应和限制片断长度多态性 (PCR RFLP)技术 ,检测 6 2例动脉粥样硬化性脑梗死患者和 79名健康对照者的C6 77T突变的基因型。结果　MTHFR基因C6 77T突变型等位基因 (V)频率在患者组和对照组间比较 ,差异有显著性意义 (χ2 =4.41,P <0 .0 5 ) ;3种基因型频率在两组人群中差异均无显著性意义。基因型频率的相对危险分析 ,AV基因型比AA基因型患脑梗死的危险高 1.76倍 ;VV基因型比AA基因型患脑梗死的危险高 3.2 5倍。结论　MTHFR基因C6 77T突变型等位基因与动脉粥样硬化性脑梗死有一定的关联 ,突变基因型增加了动脉粥样硬化性脑梗死的发病危险

Study on MTHFR gene polymorphism in atherosclerotic cerebral infarction

Objective To study the relationship between methylene tetrahydrofolate reductase (MTHFR) gene C677T polymorphism and atherosclerotic cerebral infarction.Methods The genotypes of 62 patients with atherosclerotic cerebral infarction and 79 control subjects were examined by polymerase chain reaction restricted fragment length polymorphism(PCR RFLP).Results The results showed that there was significant difference in V allele frequency of MTHFR gene C677T mutation between patients and control subjects (χ 2=4.41,P<0.05) and there was no difference in genotype frequency of MTHFR gene C677T mutation between patients and control subjects.The relative risk for atherosclerotic cerebral infarction of heterozygote (AV/AA) was 1.76 and that of homozygote (VV/AA) was 3.25.Conclusions The study confirmed that there was an association between mutated allele of the MTHFR gene C677T and atherosclerotic cerebral infarction and that the mutated genotypes increased the risk of atherosclerotic cerebral infarction.