【摘要】 目的研究冠心病相关基因MEF2A在中国人群的突变和多态性位点。方法利用聚合酶链反应-单链构象多态性(polymerase chain reaction-single strand conformation polymorphism,PCR-SSCP)和DNA测序技术检测210例冠心病(CAD)患者及190名健康人MEF2A基因第11外显子。结果冠心病患者SSCP电泳条带异常样本测序分析发现突变:①密码子451G/T(147191位点G→T)杂合或纯合同义突变;②147108~147131位点之间分别发生1个氨基酸(Q)、2个氨基酸(QQ)、3个氨基酸(QQP)、6个氨基酸(425QQQQQQ430)、7个氨基酸(424QQQQQQQ430)缺失;③密码子435G/A(147143位点)杂合突变。密码子451G/T杂合或纯合同义突变以及氨基酸的缺失是基因多态性,密码子435G/A考虑为新的突变。结论中国人群在MEF2A基因第11外显子也存在多种基因多态性,其中6或7个氨基酸的缺失和1个147143位点突变可能与冠心病易感性有关。更多还原

【Abstract】 Objective To explore the mutations and polymorphisms of MEF2A gene in Chinese population.Methods Mutation analysis of exon 11 of MEF2A gene was performed by using polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP)and DNA direct sequencing in 210 patients with coronary artery disease(CAD)and 190 normal controls.Results Mutations were found in patients with CAD by DNA sequence analysis in the samples of abnormal mobility shift of SSCP:147191nt G→T(codon 451G/T)pure or heterozygous synonymous mutation;147108-147131nt amino acid deletion(one amino acid Q,two amino acid QQ,three amino acid QQP,six amino acid 425QQQQQQ430,seven amino acid 424QQQQQQQ430);147143nt G→A(codon 435G/A).Codon 451G/T pure or heterozygous synonymous mutation and amino acid deletion were thought to be polymorphisms and 147143nt G→A(codon 435G/A)was a new mutation.Conclusion Mutation and polymorphisms in exon 11 of MEF2A gene also existed in Chinese population.The deletion mutation of 6 or 7 amino acids and 147143nt G→A(codon 435G/A)in exon 11 of MEF2A gene may be related to CAD susceptibility.更多还原