摘要
目的研究冠状动脉粥样硬化性心脏病(简称冠心病)患者MEF2A基因在中国人群突变情况。方法应用聚合酶链反应单链构象多态性(polymerasechainreaction singlestrandconformationpolymor phism,PCR SSCP)和DNA测序技术检测156例散发性冠心病(coronaryarterydisease,CAD)患者及93名健康人MEF2A基因第11外显子。结果在SSCP泳动异常标本中进行DNA直接测序后发现1例患者MEF2A基因147130(C→A)错义突变(P431Q)、147191(G→T)同义变异以及147108147128位点21个碱基缺失而导致了7个氨基酸(424QQQQQQQ430)丧失。另有两例患者仅在147108147128位点发现上述同样的21个碱基缺失而无错义突变和同义变异的改变。健康对照组未发现此错义与缺失突变,却发现存在同样的同义变异。结论冠心病患者在MEF2A基因第11外显子存在新的突变,此突变可能为病理性突变。
Objective To explore the mutations of MEF2A gene in Chinese patients with coronary artery disease （CAD）. Methods With polymerase chain reaction-single strand conformation polymorphism （PCR-SSCP） and DNA direct sequencing, the mutation analysis of exon 11 of MEF2A gene was performed to 156 patients with CAD and 93 normal controls. Results By DNA sequence analyzing the samples of abnormal mobility shift of SSCP, the MEF2A gene mutations were found in three patients with CAD. One of mutations was 147130 （C→A） （P431Q）, and the second one was 21 bases deletion（147108-147128） which was leading to the absence of 7 amino acids（424QQQQQQQ430）, and the third was 147191（G→T）. Three mutations were all found in one patient, but meanwhile 21 bases deletion was found in the other two patients. Conclusion Mutations in exon 11 of MEF2A gene exist in the patients with CAD, and the mutations may be pathological.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2006年第3期265-268,共4页
Chinese Journal of Medical Genetics
