Study on novel mutations of MEF2A gene in Chinese patients with coronary artery disease / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To explore the mutations of MEF2A gene in Chinese patients with coronary artery disease(CAD).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>Mutations in exon 11 of MEF2A gene exist in the patients with CAD, and the mutations may be pathological.</p>