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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 detect the mutation of exon 11 of MEF2A gene in Chinese Han population and analyze the gene structure and genetic significance of MEF2A specific mutation. Methods A total of 536 cases of coronary atherosclerotic heart disease, 232 cases of coronary atherosclerotic heart disease negative control and 232 healthy subjects were analyzed by PER-SSCP and / or PCR products. Exon region mutation detection, plasmid cloning and sequencing of each mutation site for further verification. Results A case-specific MEF2A 21 base mutation was found in the group of patients with coronary atherosclerotic heart disease. In addition, two rare types of mutations were found. Conclusion There are many rare types of mutations in exon 11 of MEF2A gene. The structural analysis of the MEF2A gene shows that there are multiple patterns of 21 base - specific mutations in MEF2A gene.