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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 the mutation of two common sites of homocysteine metabolites, methylenetetrahydrofolate reductase, in patients with cerebral infarction. Methods Sixty-one cases of age-matched and sex-matched cases and 86 cases of control subjects were selected for genotyping by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results The distribution of T allele in C677T mutation was significantly higher in case group than in control group. The frequency of C allele in A1298C mutation was not significantly different between the two groups. There were 3 mutations Gene heterozygote 6 77TT 12 98AC distribution difference between the two groups was significant. Conclusions Both C677T and A1298C mutations are associated with the occurrence of cerebral infarction, especially when the two mutations overlap to produce the 677TT1298AC phenotype.