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.
出处
《中国循环杂志》
CSCD
北大核心
2000年第2期83-84,共2页
Chinese Circulation Journal
