深部脑白质缺血患者影像表现与MTHFR基因多态性关系的初步探讨

Relationships between MRI Manifestations of Deep Brain White Matter Ischemic and the Polymorphism of MTHFR Gene

目的探讨MTHFR的纯和子突变TT型基因是否为诱发皮质下深部脑白质缺血的危险因子,并证实皮质下深部脑白质缺血影像表现与MTHFR基因C/T多态性的关系。方法影像表现符合皮质下深部脑白质缺血诊断标准的患者50例,对照组50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,得出病例组MTHFR基因纯合突变TT型较对照组显著升高(χ2=11.765,P<0.001)。运用成组设计两样本比较的秩和检验,得出TT型和非TT型患者影像表现的分级程度上有差别,携带TT型基因的患者影像表现分级重。结论MTHFR纯和突变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正相关。

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 the MR/manifestation of deep brain white matter ischemia and C/T polymorphism of MTHFR gene. Methods The study group included 30 patients whose MRI findings agreed with deep brain white matter ischemia, and the controls group was composed of 50 individuals who had normal findings on MRI. Using PCR - RFLP technique, the polymorphisms of MTHFR gene in two groups were estimated. Results The frequencies of the homozygous mutation TT type of MTHFR gene in study and controls group （χ^2 = 11. 765, P 〈0. 001 ）. Statisic analysis showed that difference in imaging manifestation grade existed between Tr genotype and non - TT genotype patients. Patients with Tr genotype showed worse imaging features. Conclusion MTHFR sheer mutation （Tr type） is a risk factor with of deep brain white matter ischemia. Tr genotype has a parallel relationship with the susceptibility to deep brain white matter ischemic and the severity of imaging features.