摘要
目的 检测我国汉族人群中肌细胞增强因子2A（MEF2A）基因CAG三联核苷酸重复序列的多态性分布，调查MEF2A基因CAG三联核苷酸重复序列的多态与冠状动脉粥样硬化性心脏病发生的相关性。方法 用聚合酶链反应．单链构象多态性和（或）聚合酶链反应产物直接测序法对257例冠状动脉粥样硬化性心脏病阳性病例、154例冠状动脉粥样硬化性心脏病阴性对照及232例健康体检者的MEF2A基因编码区和5’非翻译区进行全基因扫描，并用病例-对照方法研究了CAG等位基因与冠状动脉粥样硬化性心脏病发生的相关性。结果 在我国汉族人群中，MEF2A基因第11号外显子中CAG三联核苷酸重复单元的个体携带数目从4～15个不等，存在CAG三联核苷酸的多态分布，4～8个CAG的等位基因与冠状动脉粥样硬化性心脏病的易感性显著相关（P=0.0057，OR=2．73，95％CI：1．25～6．15）.结论 MEF2A基因第11号外显子4-8个CAG的等位基因可能与我国汉族人群冠状动脉粥样硬化性心脏病发生相关，提示MEF2A基因第11号外显子4-8个CAG的等位基因可能是冠状动脉粥样硬化性心脏病的易患因素.
Objective To investigate the CAG triplet polymorphism sites of MEF2A （myocyte enhancer factor2A） in the Han nationality of China and to investigate the association of these polymorphisms with the pathogenesis of nonfamilial coronary artery disease （CAD）. Methods Two methods, including single-strand conformational polymorphism （SSCP） analysis and DNA sequencing, were used to screen all coding regions and 5＇untranslated regions of MEF2A gene. Altogether 257 positive CAD patients, 154 negative controls and 232 normal healthy people were studied in this study. In addition, a case-control research was also conducted to explore the relationship between alleles of CAC repeat and the onset of coronary artery disease. Results A CAC triplet polymorphism site, with repeat number varying from 4 to 15, was found in the llth exon ofMEF2A gene in the Han nationality of China. Additionally, statistical analysis showed that alleles with CAG repeat numbers from 4 to 8 were significantly associated with CAD （ P = 0. 0057, OR = 2.73,95% CI： 1.25- 6.15）. Conclusion Alleles with CAG repeat numbers from 4 to 8 may significantly associated with the occurrence of coronary artery disease, inferring that alleles with shorter repeat numbers （from 4 to 8） may be regarded as a susceptible factor for CAD.
出处
《中华老年心脑血管病杂志》
CAS
北大核心
2006年第10期671-674,共4页
Chinese Journal of Geriatric Heart,Brain and Vessel Diseases
基金
中央保健委员会办公室资助项目(0302)
卫生部北京医院重点课题(2005001)
