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[Study on novel mutations of MEF2A gene in Chinese patients with coronary artery disease]
Jing Li1, Jun-guo Yang, Wei Li
1Institute of Cardiology, Tongji Medicd College, Huazhong Science and Technology University, Human Genome Research Center of Wuhan Union Hospital, Wuhan, Hubei, 430022, PR China.
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.
