普通人群急性心肌梗死患者MEF2A第11外显子的基因变异研究

目的研究MEF2A基因第11外显子在普通急性心肌梗死(简称心梗)患者中的变异情况。方法应用聚合酶链反应-单链构象多态性(PCR-SSCP)和DNA测序技术检测263例散发急性心梗和207例非冠心病个体MEF2A基因第11外显子的基因序列,并比较其异同。结果按SSCP电泳条带的多少和泳动距离将标本分类后,随机选取200例病例组和101例对照组进行DNA直接测序,共发现4个多态位点:A位点,8290-8319CAG重复序列,呈长度多态,导致翻译产物421-430之间谷氨酰胺q个数呈4～15个不等;B位点:8320-8334呈ccgccgccaccaccg和ccgccaccaccg两种多态,导致翻译产物431-435脯氨酸p个数为4～5个不等;C位点,同义变异8334G→A;D位点,同义变异8382G→T。4个多态位点在病例组和对照组之间无差异。本实验未发现MEF2A基因第11外显子上的突变。结论普通急性心梗人群MEF2A基因第11外显子存在4个多态位点,但这些多态位点似乎与心梗的发病无关。

The genetic variants of exon 11 of MEF2A gene in patients with acute myocardial infarction

Objective To explore the variation of the exon 11 of MEF2A gene in patients with acute myocardial infarction(AMI).Methods With polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP)and DNA direct sequencing,the variation analysis of the exon 11 of MEF2A gene was performed in 263 sporadic patients with AMI and 207 non-coronary artery disease controls.Results Based on the diversity of the mobility shift of SSCP,the exon 11 of MEF2A gene was sequenced in 200 patients and 101 controls,and 4 variants were found:Site A,a repeated CAG sequence located at 8290-8319,resulted in an amino acid length polymorphism that the number of polyglutamine tandem repeats varied between 4 and 15;Site B,another amino acid length polymorphism:the number of proline tandem repeats varied as 4 or 5(431-435),with two genotype:"ccgccaccaccg" and "ccgccgccaccaccg";Site C,a synonymous variant G→A localized at 8334;Site D,another synonymous variant G→T localized at 8382.There was no significant difference for the incidence of all four variants between two groups.Conclusion Four polymorphisms in exon 11 of MEF2A gene are found in Chinese patients with AMI,however,they seem not to be related to the pathogenesis of AMI.