Study on novel mutations of MEF2A gene in Chinese patients with coronary artery disease.
- Author:
Jing LI
1
;
Jun-guo YANG
;
Wei LI
;
Rong DU
;
Le GUI
;
Li TIAN
;
Qiu-hui GUO
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Aged; Asian Continental Ancestry Group; genetics; Base Sequence; China; Coronary Artery Disease; ethnology; genetics; DNA Mutational Analysis; Female; Genetic Predisposition to Disease; genetics; Humans; MEF2 Transcription Factors; Male; Middle Aged; Molecular Sequence Data; Mutation; Myogenic Regulatory Factors; genetics; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational
- From: Chinese Journal of Medical Genetics 2006;23(3):265-268
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the mutations of MEF2A gene in Chinese patients with coronary artery disease(CAD).
METHODSWith 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.
RESULTSBy 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.
CONCLUSIONMutations in exon 11 of MEF2A gene exist in the patients with CAD, and the mutations may be pathological.
