[Detection of single nucleotide polymorphism of all coding regions in ABCA1 gene in patients with coronary heart disease].
OBJECTIVE
To study single nucleotide polymorphism (SNP) of all the coding region in ABCA1 gene in 112 patients with coronary heart diseases.


METHODS
With polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) combining argentation and glue retrieval, DNA sequencing, and restriction fragment length polymorphism (RFLP), the SNP of the 50 exons in all the coding regions of ABCA1 gene was detected in 112 patients with established diagnosis of coronary heart disease.


RESULTS
In the Chinese population with coronary heart disease, besides the SNP variation at R219K and M883I as widely reported, a new single base variation at A1092G in exon 7 was detected, which led to a conversion of the amino-side residue to M223V. This variation was confirmed to represent a novel SNP by RFLP in 108 normal subjects.


CONCLUSIONS
The Chinese population with coronary heart disease has not only the reported SNP changes at the sites R219K and M883I, but also changes at the new SNP site of M233V, which is discovered for the first time in M233V of ABCA1 gene. This variation may increase the risks for coronary heart diseases, and its exact function awaits examination in further epidemiologic survey.
Department of Cardiology, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China. wqg1993@sohu.com
Qi-guang
QG
Wang
Zhi-gang
ZG
Guo
Wen-yan
WY
Lai
Zheng
Z
Zha
Ya-yang
YY
Liu
Ling
L
Liu
D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000328:Adult; D000368:Aged; D001483:Base Sequence; D003327:Coronary Disease / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D016366:Open Reading Frames / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA
C577836:ABCA1 protein, human; D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters