甲烯四氢叶酸还原酶基因多态性与急性脑血管疾病关系的研究

Study of the correlation between cerebral apoplexy and MTHFR gene

目的 :探讨同型半胱氨酸代谢过程的关键酶之一甲烯四氢叶酸还原酶 (MTHFR)基因多态性与急性脑血管病 (脑卒中 )发病的关系。方法 :采用 PCR技术和限制性内切酶片段长度多态性方法检测脑卒中患者与正常对照组 MTHFR基因 C6 77T位碱基突变。结果 :MTHFR基因 C6 77T突变型等位基因 (T)频率在病例组和对照组间差异有显著性 (χ2 =5 .0 1,P<0 .0 5 ) ,TT和 CT两种基因型频率差异无显著性 ,而 CC基因型频率在两组间差异有显著性。基因型频率的相对风险分析 ,CT基因型比 CC基因型患脑卒中风险高 2 .0 9倍 ,TT基因型比 CC基因型患脑卒中风险高 3.0 0倍。结论 :MTHFR基因突变型等位基因与脑卒中有一定的关联 ,突变基因型增加了脑卒中的发病风险。

Objective: To approach the correlation between cerebral apoplexy and the polymorphism of MTHFR gene which is one of the key enzymes in the homocysteine metabolism. Methods: PCR and the polymorphism of REFL were used to test the allele T on C677T locus of MTHFR gene. Results: The frequency of allele T on C677T locus of MTHFR gene showed a significant difference between the study cohort and the control group ( χ 2=5.02 P <0.05). There were no significant differences in the frequencies of TT and CT, but there were differences in that of CC. The relative risk ratio of the frequencies of CT (RR, 2 09) and TT (RR, 3 00) was higher than that of CC. Conclusion: The mutation allele of MTHFR gene appears to have a certain increased risk of the cerebral apoplexy.