冠心病患者亚甲基四氢叶酸还原酶A1298C和胱硫醚缩合酶G919A基因多态性的研究

Polymorphisms of the methylenetetrahydrofolate reductase gene A1298C and cystacyonine synthethase gene G919A in patients with coronary artery disease

目的研究冠心病(CAD)患者亚甲基四氢叶酸还原酶(MTHFR)A1298C和胱硫醚缩合酶(CBS)G919A基因多态性。方法MTHFR基因A1298C多态性检测采用限制性内切酶片段长度分析法(RFLP),CBS基因G919A多态性检测采用扩增阻滞突变体系(ARMS)方法,血浆Hcy水平测定采用高压液相色谱分析法。结果MTHFR基因1298位点在冠心病组和正常组各1例CC纯合子,AC杂合型频率在冠心病组(11.7%)低于正常对照组(21.4%),患者组和正常对照组基因型比例之间差异有显著性意义(U=20914.5,P<0.05),但各基因型之间血浆Hcy水平差异无显著性意义(P>0.05)。CBS基因G919A多态性患者组和正常对照组基因型比例之间差异无显著性意义(Χ2=4.956,P>0.05),各基因型之间血浆Hcy水平差异无显著性意义(P>0.05)。结论MTHFR基因A1298C与冠心病可能有一定关系,CBS基因G919A多态性与冠心病无明显关系,两者均不影响血浆Hcy水平。

Object To study the polymorphisms of the methylenetetrahydrofolate reductase （MTHFR） gene A1298C and cystacyonine synthethase（CBS） gene G919A in patients with coronary artery disease （CAD）. Methods Polymorphisms of MTHFR gene were determined by PCR - RFLP. Polymorphisms of CBS gene were determined by ARMS. Homocysteine（Hcy） levels were detected by HPLC. Results There is difference in genetic frequency of MTHFR A1298C between CAD group and control group（ U =20914.5, P 〈0.05）. However, there is no difference in plasma Hcy levels among three genetic types. There are also no differences in CBS G919A genetic frequency and Hcy levels. Conclusion There is probably relation between MTHFR A1298C genetic polymorphism and CAD. But CBS G919A polymorphism is not related to CAD. Hcy levels are not influenced by both genetic polymorphisms.