北京市汉族人群MEF2A基因第7号外显子突变的检测及其意义

目的 检测我国汉族人群中MEF2A基因第7号外显子的突变，探讨这一突变的临床意义。方法 用PCR-单链构象多态性（SSCP）和（或）PCR产物直接测序法对500例冠状动脉粥样硬化性心脏病患者、157例经冠状动脉造影证实无冠状动脉堵塞者为非冠心病组及242例健康体检者的MEF2A基因第7号外显子进行基因突变的检测。结果 对参与研究的899例受试者MEF2A基因第7号外显子基因突变的检测结果表明，在MEF2A第7号外显子中未发现任何类型的基因突变。结论 MEF2A第7号外显子的突变可能不是我国汉族人群冠状动脉粥样硬化性心脏病的遗传易感因素。与国外研究比较，在MEF2A第7号外显子突变的临床意义上，我国汉族人群与白种人群间存在明显的地域和种族差异。

Association of mutations in exon 7 of myocyte enhance factor-2A (MEF2A) gene with risk factors of coronary artery disease in Chinese Han population in Beijing

Objective To identify the mutations in exon 7 of myocyte enhance factor-2A (MEF2A) gene and to investigate the association of the mutations with coronary artery disease (CAD) in Chinese Han population in Beijing. Methods Two hundred and forty-two healthy individuals, 157 controls with normal anginograms and 500 independent CAD patients from Chinese Han population in Beijing were selected to detect the mutations in exon 7 of MEF2A by single-stranded conformation polymorphism (SSCP) techniques and/or direct sequencing. Results No mutation was detected in exon 7 of MEF2A gene in all the 899 samples. Conclusions Mutation in exon 7 of MEF2A gene may not be genetic risk factor leading to CAD in the Chinese Han population in Beijing, and the discrepancy between the foreign and our research may be due to area- and race-specifics.