脑梗死患者亚甲基四氢叶酸还原酶的基因多态性

Gene polymorphism of methylenetetrahydrofolate reductase in elderly patients with cerebral infarction

目的探讨不同亚甲基四氢叶酸还原酶(MTHFR)基因型对同型半胱氨酸(Hcy)水平的影响。方法选取首发脑梗死老年患者70例(脑梗死组)和老年健康体检者70例(对照组),采用限制性内切片段多态性分析法检测MTHFR基因C667T位点基因,测定空腹血浆Hcy浓度。结果两组MTHFR基因频率C/C、C/T、T/T差异无统计学意义(P>0.05)。脑梗死组Hcy水平高于对照组[(17.15±5.24)μmol/L vs.(11.18±7.23)μmol/L](P<0.05)。140例受试者中,T/T基因型的Hcy水平高于C/C和C/T基因型(P<0.05)。结论 MTHFR基因C677T位点多态性与脑梗死有一定的关联。血清Hcy水平升高可能增加脑梗死的发病风险。

Objective To study the effect of methylenetetrahydrofolate reductase（MTHFR）gene polymorphism on the level of homocysteine（Hcy）.Methods The MTHFR C677 Tgenotypes were analyzed by restriction fragment polymorphism analysis and serum homocysteine（Hcy）was measured by fluorescence polarization immunoasssay in 70 elderly patients with cerebral infarction（group A）and 70 healthy controls matched for age and sex（group B）.Results The genotype frequency of MTHFR gene C677 T genotypes of C/C,C/T and T/T mutation was not significantly different between groups of A and B（P〉0.05）.Serum level of Hcy was higher in group A than that in group B[（17.15±5.24）μmol/L vs.（11.18±7.23）μmol/L]（P〈0.05）,which was higher in the patients with C677 T genotypes of T/T than that in patients with C677 T genotypes of C/C and C/T（P〈0.05）.Conclusion There is a certain association between mutation of the MTHFR gene C677 T and cerebral infarction.An increased serum level of Hcy may increase the risk for cerebral infarction.