我们的网站为什么显示成这样？

可能因为您的浏览器不支持样式，您可以更新您的浏览器到最新版本，以获取对此功能的支持，访问下面的网站，获取关于浏览器的信息：

|本期目录/Table of Contents|

MTHFR基因多态性及血浆同型半胱氨酸水平与冠心病的关系(PDF)

《心脏杂志》[ISSN:1009-7236/CN:61-1268/R]

期数:
2006年第5期
页码:
542-543，552
栏目:
临床研究
出版日期:
2006-10-25

文章信息/Info

Title:
Relationship between methylenetetrahydrofolate reductase gene polymorphisms, levels of plasma homocystein and coronary heart disease
作者:
潘棱;  沈晓丽;  林立芳;  顾园园;  陈诗泉;  吴志勇;  浦晓东
福建省心血管病研究所﹑心血管病重点实验室，福建 福州 350001
Author(s):
PAN Leng;  SHEN Xiao-li;  LIN Li-fang;  GU Yuan-yuan;  CHEN Shi-quan;  WU Zhi-yong;  PU Xiao-dong
Fujian Provincial Institute of Cardiovascular Disease, Fujian Provincial Key Laboratory of Cardiovascular Disease, Fuzhou, Fujian 350001, China
关键词:
亚甲基四氢叶酸还原酶; 同型半胱氨酸; 冠状动脉疾病
Keywords:
methylenetetrahydrofolate reductase gene;  homocystein;  coronary disease
分类号:
R541.4
DOI:
-
文献标识码:
A
摘要:
目的 研究亚甲基四氢叶酸还原酶（methylenetetrahydrofolate reductase，MTHFR）基因677位单核苷酸多态性（CT）与血浆同型半胱氨酸（homocysteine, Hcy）水平及冠心病之间的关系。方法 用多聚酶链式反应－限制性片段多态性（RFLP）方法检测122例冠心病患者（冠脉造影显示至少有1支血管狭窄≥50％）与56例对照组（冠脉造影未发现任何可辨认斑块或狭窄）的MTHFR 677位单核苷酸多态性（CT）；用荧光衍生化后高效液相色谱法（high –performance liquid chromatography ，HLPC）检测血浆总Hcy水平。结果 ①冠心病组Hcy浓度高于对照组(P<0.05)。② 冠心病组中TT、TC、CC 的基因型频率分别为30%、45%、25%；T等位基因频率为 53%，C等位基因频率为47%。在对照组中TT、TC、CC 的基因型频率分别为25%、32%、43%;T等位基因频率为 41%，C等位基因频率为59%。两组基因型分布和等位基因频率分布差异有显著性（均P<0.05）。③ 两组的TT基因型者血浆Hcy浓度均显著高于CC和TC基因型者(P<0.05)，而后两者间无显著性差异。结论 MTHFR基因C677T点突变对冠心病发病有一定的关系。MTHFR基因纯合突变是引起高Hcy血症的一个重要的遗传因素。
Abstract:
AIM To investigate the relationship between methylenetetrahydrofolate reduetase (MTHFR) gene polymorphisms, plasma homocystein (HCY) and coronary heart disease (CHD). METHODS One hundred and seventyeight subjects who had undergone coronary angiography in our hospital were included in this study. Cases (n=122) with ≥50% stenosis in at least one of the three coronary vessels were angiographically defined as having coronary heart disease (CHD), while subjects (n=56) without stenosis in all the three coronary vessels were included as controls. MTHFR gene C677T polymorphisms was determined with polymerase chain reaction (PCR) and restriction fragment length polymorphisms (RFLP). Plasma HCY levels were measured using highperformance liquid chromatography with fluorescence detection. RESULTS The mean plasma HCY was significantly higher in CHD patients than that in in controls（P<0.05）. The frequencies of MTHFR C677T homogenetic type and heterogenetic type in patients with CHD were 30% and 45% respectively, higher than those in control group (25% and 32%, respectively). The frequency of 677T allele was much higher than that in control group (P<0.05) and plasma HCY levels were markedly higher in patients with TT genotype than those in patients with TC and CC genotype (P<0.05). CONCLUSION MTHFR C677T gene polymrophism is closely associated with CHD.

参考文献/References

［1］ 闫韵洪，张利华. 血浆同型半胱氨酸与冠状动脉粥样硬化的相关性［J］. 心脏杂志,2002,14(4):303-304.

［2］ 陈健,张金枝,程龙献.高同型半胱氨酸血症:心脑血管疾病的独立危险因子［J］. 心血管病学进展,2000，21(2):75-78.

［3］ 潘棱, 沈晓丽, 林立芳,等. 冠心病患者血浆同型半胱氨酸和高敏C反应蛋白与冠状动脉病变支数的关系［J］. 心脏杂志, 2004,16(5):446-448.

［4］ Frosst P, Blom HJ, Milos R,et al. A candidate genetic risk factor for vascular disease: a common mutation methylenetetrahydrofolate reductas［J］. Nat Genet, 1995,10(1):111-113.

［5］ Sharma P. Genes for ischaemic stroke: strategies for their detection［J］. J Hypertens, 1996,14(3):277-285.

［6］ 许海燕, 陈在嘉, 汤健,等. 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［J］. 中国循环杂志，2000，15(2):83-84.

［7］ 王晓玲，顾东风，孙峰，等. 亚甲基四氢叶酸还原酶基因C677T突变与冠心病的连锁分析［J］. 中华医学遗传学杂志, 2001,18(3):206-208.

备注/Memo

备注/Memo:
收稿日期：2005-01-14.基金项目：福建省科技基金项目资助（No:2001Z042） 作者简介：潘棱，副主任技师 Tel：（0591）87557768 Email:panling66@163.com
更新日期/Last Update: