[Study on novel mutations of MEF2A gene in Chinese patients with coronary artery disease].
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.


CONCLUSIONS
Mutations in exon 11 of MEF2A gene exist in the patients with CAD, and the mutations may be pathological.
Li
Jing
J
Institute of Cardiology, Tongji Medicd College, Huazhong Science and Technology University, Human Genome Research Center of Wuhan Union Hospital, Wuhan, Hubei, 430022, PR China.
Yang
Jun-guo
JG
Li
Wei
W
Du
Rong
R
Gui
Le
L
Tian
Li
L
Guo
Qiu-hui
QH
D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D003324:Coronary Artery Disease / Q000208:ethnology / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D064326:MEF2 Transcription Factors; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D018006:Myogenic Regulatory Factors / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
D064326:MEF2 Transcription Factors; D018006:Myogenic Regulatory Factors