MTHFR、CBS基因多态性与脑血管病的相关性研究

目的 研究MTHFR、CBS基因多态性与脑血管病的遗传相关性。方法采用限制性内切酶片段长度多态性方法，对54例脑梗死、27例脑出血及96例健康人MTHFR基因C677T、CBS基因T27796C多态性位点进行检测。结果MTHFR C677T位点与脑梗死及脑出血均有显著相关，两组与对照组之间T／C等位基因频率存在差异。TT型携带者较CC型患脑血管病的风险高。CBS T27796C位点与脑血管病无明显相关。结论 MTHFR基因可能是脑血管病的一个易感基因。CBS基因T27796C多态性位点与脑血管病无明显相关。

Association between polymorphisms of MTHFR, CBS gene and cerebral vascular diseases

Objective To determine whether the mutation C677T of MTHFR gene or T27796C of CBS are associated with cerebral vascular diseases or not.Methods A case-control study was conducted incluing analyzing MTHFR and CBS gene in 81 cases (54 IS,27 HS) and 96 controls by PCR-RFLP.Results This investigation showed that 677T allele,52.8% in IS patients and 55.6% in HS comparing 39.1% in controls.The frequency of the T allele was higher in both kinds of patients than that in normal control.The frequency of C alleles of T27796C mutation was follows:56.5% in IS and 57.4% in HS,comparing 50.5% in controls.Conclusions MTHFR C677T polymorphism is associated with cerebral vascular diseases MTHFR gene may be one of predisposing genes for stroke.No significant association is observed for T27796C(CBS) mutation among the cases and controls.