N5,N10-亚甲基四氢叶酸还原酶基因多态性与青年脑梗死的关系

Genetic polymorphism of methylenetetrahydrofolate reductase in young adults with cerebral infarction

目的 研究N5,N10 -亚甲基四氢叶酸还原酶（MTHFR）基因多态性与青年脑梗死的关系.方法 将67例青年脑梗死患者作为病例组,同期71例健康体检者作为对照组,用聚合酶链反应-限制性内切酶片段长度多态性分析（PCR-RFLP）的方法来观察MTHFR 677和1298位点基因型.结果 MTHFR 677位点基因型病例组中TT型为20例,占29.8％；CT型32例,占47.8％；CC型15例,占22.4％；T等位基因频率为53.7％.对照组中TT型30例,占42.2％；CT型34例,占47.9％；CC型7例,占9.9％；T等位基因频率为66.2％.对照组中TT型及T等位基因频率明显高于病例组,2组差异有统计学意义（P＜0.05）.MTHFR1298位点基因型病例组中AC型29例,占43.3％；AA型38例,占56.7％；C等位基因频率为21.6％.对照组中AC型14例,占19.7％,AA型57例,占80.3％,C等位基因为9.9％,病例组中AC型及C等位基因频率明显高于对照组,2组差异有统计学意义（P＜0.05）.结论 本组人群中MTHFR基因677及1298位点多态性与青年脑梗死都有相关性.

Objective To investigate the relation between polymorphisms of NS, N10-methylenetetrahydro- folate reductase（MTHFR） gene and cerebral infarction in young adults. Methods Sixty-seven consecutive young adult cerebral infarction and 71 healthy subjects were enrolled. The polymorphisms of MTHFR gene were analyzed u- sing polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP）. Results The frequencies of the MTHFR 677genotype were as follows： TT 20 cases（29.8% ） ;CT 32 cases（47.8% ） ; CC 15 cases（22.4% ） in stroke patients and TT 30 cases（42.2% ） ;CT 24 cases（d7.9% ） ;CC 7 cases（9.9% ） in normal subjects, respec- tively. The frequency of T alleles was significantly higher in normal controls than that in stroke patients~ The fre- quencies of the MTHFR 1298 genotype were as follows： AC, 43.3%; AA, 56.7% in stroke patients and AC, 19.7% ; AA, 80.3% among normal subjects, respectively. The frequency of C alleles was significantly higher among stroke patients than that among normal controls. Conclusion MTHFR 677 and 1298 polymorphisms are positively associated with risk of cerebral infarction in young adults.