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冠心病同型半胱氨酸与其相关酶基因MTHFR、CBS多态性关系的研究
引用本文:方显明,唐耀平,郑德俊.冠心病同型半胱氨酸与其相关酶基因MTHFR、CBS多态性关系的研究[J].陕西医学杂志,2005,34(12):1457-1459,1463.
作者姓名:方显明  唐耀平  郑德俊
作者单位:广西中医学院附属瑞康医院,南宁,530011
基金项目:广西自然科学基金资助项目(No.桂科自0229046
摘    要:目的:探讨冠心病血浆同型半胱氨酸(Hcy)水平与其代谢相关酶MTHFR、CBS基因型的关系。方法:采用试剂盒法提取人基因组DNA;采用聚合酶链反应-限制性片段长多态性(PCR-RFLP)法检测MTHFR基因型,采用扩增阻滞实变体系法(ARMS)检测CBS基因型。结果:冠心病患者MTHFR基因型异常者Hcy水平明显高于MTHFR基因型正常者,有显著差异(P<0.05);在本研究中没有检测出CBS基因突变者。结论:MTHFR基因突变是引起血浆Hcy水平升高的主要原因。

关 键 词:冠状动脉疾病/病理学  半胱氨酸/血液  @亚甲基四氢叶酸还原酶  @胱硫醚-β-合成酶  基因
收稿时间:2005-05-08
修稿时间:2005-05-08

Study on homocysteine and MTHFR ,CBS gene polymorphism in patients with coronary heart disease
Fang Xianming,Tang Yaoping,Zhen Dejun.Study on homocysteine and MTHFR ,CBS gene polymorphism in patients with coronary heart disease[J].Shaanxi Medical Journal,2005,34(12):1457-1459,1463.
Authors:Fang Xianming  Tang Yaoping  Zhen Dejun
Institution:RuiKang Hospital Attached to Guangxi College of Traditional Chinese Medicine, Nanning 530011
Abstract:Objective : To explore relation between the level of plasma homocysteine(Hcy) and its relative enzyme gene MTHFR and CBS in patients with coronary heart disease. Methods:Human DNA was picked up by method of reagent box.The MTHFR genotypes were tested by the restriction fragment length polymorphism method(PCR-RFLP).The CBS genotypes were tested by the amplification refractory mutation system (ARMS)method. Result: The results show that the level of plasma Hcy is markedly higher in patients with gene mutation than in patients without gene mutation(P<0.05);the CBS genetic mutation is not found in this experiment.Conclusion: MTHFR genotype is one of main factors which cause level of Hcy to rise.
Keywords:Coronary disease/pathology Cysteine/blood @MTHFR @CBS Genes
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