中国人群MEF2A基因与冠状动脉疾病的易感性

摘要

Objective To explore MEF2A gene and susceptibility to coronary artery disease in the Chinese.Methods One hundred seventy-five coronary artery disease (CAD) patients and 228 normal subjects were recruited and their blood samples were amplified to detect sequences of all 11 exons of MEF2A gene by PCR. Singlestrand conformational polymorphism (SSCP) analysis was used to detect the mutation. The amplified products were purified and sequenced. Results The tri-nucleotide (CAG) length polymorphism in the last coding exon of MEF2A in the Chinese was revealed and 4 of the 175 (2.3%) CAD samples containing 4 prolines were due to one proline deletion in MEF2A gene. But all the 228 normal subjects contained 5 prolines. The mutation in both 175 CAD samples and 228 normal subjects was not found in other exons. Conclusion The deletion mutation in exon 11 in MEF2A gene may be related to CAD susceptibility in the Chinese population.%目的:探讨中国人群MEF2A基因与CAD的易感性关系.方法:对175例冠状动脉疾病(CAD)患者和228例正常对照的血标本进行PCR扩增MEF2A基因的11个外显子,然后采用SSCP方法检测外显子的突变并对扩增产物进行纯化和测序分析.结果:MEF2A基因的第11外显子存在三核苷酸(CAG)重复多态性,CAD患者和正常对照之间无统计学差异(P＞0.05);另发现4例CAD患者在第11外显子存在1个CCG的缺失突变,突变率约为2.3%,而正常对照未见此突变;CAD患者和正常对照组MEF2A基因的其它外显子未发现突变.结论:中国人群MEF2A基因第11外显子存在1个CCG的缺失突变可能与冠状动脉疾病患者易感性有关.