【摘要】 目的　探讨MTHFR的纯合突变TT型基因是否为诱发皮层下深部脑白质缺血的危险因子 ,并证实皮层下深部脑白质缺血影像表现与MTHFR基因C/T多态性的关系。资料与方法　选择影像表现符合皮层下深部脑白质缺血诊断标准者 3 0例 ,对照组 3 0例为影像表现正常者 ,运用多聚酶链反应 限制性内切酶片段长度多态性技术(PCR RFLP)检测两组MTHFR基因多态性。结果　采用 χ2 检验 ,得出MTHFR基因纯合突变TT型在病变组与对照组比较差异有显著性 ( χ2 =5 .0 794,P <0 .0 5 ) ,病变组TT型较对照组显著升高 ,说明MTHFR的纯合突变TT型可能是诱发深部脑白质缺血的危险因素。运用成组设计两样本比较的秩和检验 ,得出TT型和非TT型患者在影像表现的分级程度上有差别 ,携带TT型基因者影像表现分级重。结论　MTHFR纯合突变TT型基因是深部脑白质缺血发病的危险因子 ,且TT型基因与深部脑白质缺血的易感性和影像表现呈明显正相关更多还原

【Abstract】 Objective To clarify whether MTHFR sheer mutation (TT type) is a risk factor in inducing deep brain white matter ischemia, and to shed light on the relationship between MRI manifestations of deep brain white matter ischemia and C/T polymorphism of MTHFR gene. Materials and Methods The study group included 30 patients whose MRI findings agreed with deep brain white matter ischemia, and the control group was composed of 30 individuals who had normal findings on MRI. Using PCR-RFLP technique, the polymorphism of MTHFR gene in two groups were estimated.Results The frequency of homozygous mutation TT type of MTHFR gene in study and control group was 43.3% and 16.7%, respectively. The frequency of TT genotype of MTHFR gene in study group was higher than that in control group (χ 2=5.0794, P<0.025). Statistic analysis showed that difference in imaging manifestation grade existed between TT genotype and non-TT genotype patients. Patients with TT genotype showed worse imaging features.Conclusion MTHFR sheer mutation (TT type) is a risk factor in inducing deep brain white matter ischemia. TT genotype has a parallel relationship with the susceptibility to deep brain white matter ischemia and the severity of imaging features.更多还原