摘要：



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 1.06～2.86) 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。Abstract To study genetic mutations of methylenetetrahydrofolate reductase (MTHFR) C677T and cystathionine-β-synthase (CBS) T833C related to homocysteine metabolism in patients with ischemic stroke, the MTHFR gene C677T gene mutation and the CBS T833C gene mutation were detected by PCR-RFLP or ARMS method in 74 patients with ischemic stroke and 83 normal people for control. Results showed that the frequencies of MTHFR T homogenetic type (2.7%) , heterogenetic type (51.4%) and T allele (28.4%) in ischemic group were higher than those in control group (1.2%, 39.8% and 21.1%, respectively). The frequencies of CBS C homogenetic type (13.5%) and C allele (43.9%) in ischemic group were higher than those in control group (6.0% and 38.0%, respectively). Multiple Logistic Regression analysis showed that together with the T allele in MTHFR, the C allele in CBS and age were related to ischemic stroke (P<0.05). The odds ratios (OR) of the T allele in MTHFR C677T and the C allele in CBS T833C were 1.74 (95%CI 1.06-2.86) and 1.73 (95%CI
1.07-2.81) respectively. The study revealed that the genetic mutations of MTHFR C677T, CBS T833C,were related with the ischemic stroke. The genetic mutations of MTHFR C677T and CBS T833C may be genetic factors for ischemic stroke.