title: [Study on novel mutations of MEF2A gene in Chinese patients with coronary artery disease].
abstract: 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.
authors.affiliation: Institute of Cardiology, Tongji Medicd College, Huazhong Science and Technology University, Human Genome Research Center of Wuhan Union Hospital, Wuhan, Hubei, 430022, PR China.
authors.forename: Jing
authors.initials: J
authors.lastname: Li
authors.forename: Jun-guo
authors.initials: JG
authors.lastname: Yang
authors.forename: Wei
authors.initials: W
authors.lastname: Li
authors.forename: Rong
authors.initials: R
authors.lastname: Du
authors.forename: Le
authors.initials: L
authors.lastname: Gui
authors.forename: Li
authors.initials: L
authors.lastname: Tian
authors.forename: Qiu-hui
authors.initials: QH
authors.lastname: Guo
mesh_terms: 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
chemical_list: D064326:MEF2 Transcription Factors; D018006:Myogenic Regulatory Factors