摘要
目的检测我国汉族人群中MEF2A基因第11号外显子区的突变,分析MEF2A特异性突变的基因结构和遗传学意义。方法用PER-SSCP和／或PCR产物直接测序法对536例冠状动脉粥样硬化性心脏病阳性病例、232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基因第11号外显子区进行突变检测,用质粒克隆测序法对各突变位点作进一步验证。结果在冠状动脉粥样硬化性心脏病阳性病例组发现一例MEF2A 21碱基的特异性突变。另外还发现二种罕见的突变类型。结论MEF2A基因第11号外显子区存在多种罕见的突变类型,基因结构分析显示MEF2A基因21碱基特异性突变有多种形成模式。
Objective To identify mutations in exonl 1 of Myocyte Enhance Factor-2A （MEF2A） Gene and to investigate it＇ s genetic significance in a Chinese Han Population. Methods Mutations were detected by SSCP and direct sequencing in 536 independent CAD patients whose angiograms showed at least one stenosis involving≥75% and 232 controls with normal angiograms as well as 232 healthy individuals. We confirmed the mutations with sequencing of clone. Results A case of 21-bp deletion was identified in exon 11 of MEF2A gene in the Chinese CAD population, we also found two rare cases carrying specific variant in exon 11 of MEF2A. Conclusion There are several mutations in exon 11 of MEF2A gene in our Chinese CAD population . Further genetic analysis of MEF2A gene showed that there may be several possible models for the 21-bp deletion,
出处
《中国分子心脏病学杂志》
CAS
2006年第4期208-211,F0003,共5页
Molecular Cardiology of China
基金
中央保健专项资金资助项目(0302)
卫生部北京医院重点课题(2005001)
