单种或多种相关基因突变对血浆同型半胱氨酸水平的影响  

The Effects of Genetic Mutation of Metabolism Related Enzymes on Plasma Homocysteine Level

作　　者：许海燕[1] 陈在嘉[1] 汤健[2] 杨跃进[1] 陈纪林[1] 张春玲[3] 叶珏[3] 惠汝太 

机构地区：[1]中国医学科学院中国协和医科大学心血管病研究所阜外心血管病医院冠心病研究所,北京市100037 [2]北京医科大学心血管病研究所 [3]中国医学科学院中国协和医科大学分子医学中心,北京市100037

出　　处：《中国循环杂志》2000年第2期83-84,共2页Chinese Circulation Journal

摘　　要：目的：研究同型半胱氨酸（Ｈｃｙ）代谢相关酶甲烯四氢叶酸还原酶（ＭＴＨＦＲ）基因Ｃ６７７Ｔ和胱硫醚缩合酶（ＣＢＳ）基因Ｔ８３３Ｃ位碱基突变对血浆Ｈｅｙ水平的影响。 方法：采用多聚酶链反应－限制性内切酶片段长度多态性技术检测 ＭＴＨＦＲ Ｃ６７７Ｔ基因型，用扩增阻滞突变体系法检测ＣＢＳ基因Ｔ８３３Ｃ多态性，采用高压液相色谱法测定Ｈｃｙ水平。 结果：ＭＴＨＦＲ和ＣＢＳ基因突变者血浆Ｈｃｙ水平均高于无基因突变者（Ｐ＜０．０５，Ｐ＜０．０１，Ｐ＜０．００１），而两者同时存在突变者Ｈｃｙ水平高于只有一种或均正常的基因型（Ｐ＜０．０５，Ｐ＜０．０１）。 结论：ＭＴＨＦＲ基因Ｃ６７７Ｔ点突变和ＣＢＳ基因Ｔ８３３Ｃ点突变可能是影响血浆同型半胱氨酸水平的重要遗传因素。Objective:To study the effects of methylenetetrahydrofolate reductase (MTHFR)C677T and cystathionine β-syn- thase(CBS) T833C genetic mutation on plasma homocysteine(Hcy) level. Methods:MTHFR genetic C677T polymorphism was determined by polymerase chain reaction-restriction fragment length polymorphism and CBS T833C polymorphism by amplification refractory mutation system. Plasma Hcy levels were detected by high pressure liquid chromatography. Results:Plasma Hey levels were markedly higher in cases with MTHFR of CBS genetic mutation than those in cases without mutation(p<0. 05,or p<0. 01,or p<0. 001). Hey levels increased significantly in cases with both MTHFR and CBS genetic mutations,compared with those with either MTHFR or CBS mutation and without mutation(p<0. 05 or p <0. 01). Conclusion: Mutations of MTHFR and CBS gene play the important role in hyperhomocysteinemia.

关 键 词：同型半胱氨酸 基因突变 动脉粥样硬化 

分 类 号：R543.5[医药卫生—心血管疾病]