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为研究同型半胱氨酸代谢相关酶亚甲基四氢叶酸还原酶(MTHFR)基因C677T和胱硫醚-β-合成酶(CBS)基因T833C位点碱基突变与缺血性脑卒中的关系,对74例缺血性脑卒中患者和83例健康对照者,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测MTHFR基因C677T基因型,用扩增阻滞突变体系法(ARMS)检测CBS基因T833C突变。实验检出患者组MTHFR基因T纯合基因型、杂合基因型和T等位基因频率分别为2.7％、51.4％和28.4％,对照组分别为1.2％、39,8％和21.1％。患者组CBS基因C纯合基因型和C等位基因频率分别为13.5％和43.9％,对照组分别为6.0％和38.0％。Multiple Logistic Regression分析显示;C677T位点T等位基因,T833C位点C等位基因以及年龄均与缺血性脑卒中发病有关(P<0.05),C677T位点T等位基因的比值比(OR)为1.74(95％CI 1.06～2,B6)和T833C位点C等位基因的比值比为1.73(95％CI 1.07～-2.81)。实验显示MTHFR C677T和CBS T833C基因位点突变与缺血性脑卒中发病有关,上述两个基因位点突变可能是缺血性脑卒中发病的遗传因素。
To investigate the relationship between the mutations in the homocysteine metabolism-related gene, methylenetetrahydrofolate reductase (MTHFR) gene C677T and the cystathionine-β-synthase (CBS) gene T833C, and ischemic stroke , 74 patients with ischemic stroke and 83 healthy controls were enrolled in this study. Genotype C677T of MTHFR gene was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) Method (ARMS) to detect CBS gene T833C mutation. The homozygous genotypes, heterozygous genotypes and T allele frequencies of MTHFR gene were 2.7%, 51.4% and 28.4% in the group of patients and 1.2%, 39.8% and 21.1% in the control group respectively. The frequencies of C homozygous C allele and C allele of CBS gene C were 13.5% and 43.9% in the patients’ group and 6.0% and 38.0% in the control group respectively. Multiple Logistic Regression analysis showed that the T allele of C677T, the C allele of T833C and age were related to the incidence of ischemic stroke (P <0.05), and the ratio of T allele of C677T ) Was 1.73 (95% CI 1.06 ~ 2, B6) and the T833C locus C allele was 1.73 (95% CI 1.07 ~ -2.81). Experiments show that MTHFR C677T and CBS T833C gene mutations associated with the pathogenesis of ischemic stroke, the mutation of the above two loci may be ischemic stroke genetic factors.