[A novel polymorphism in the ATP-binding cassette transporter A1 gene (M233V) in Chinese patients with coronary artery disease].
OBJECTIVE
To identify ATP-binding cassette transporter A1 (ABCA1) gene polymorphism in Chinese patients with coronary artery disease (CAD).


METHODS
Single Nucleotide Polymorphisms in the ABCA1 gene were detected by polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP)-DNA sequence and restriction-fragment length polymorphism (RFLP) method in 112 patients with CAD.


RESULTS
A novel polymorphism in the ABCA1 gene was found in two patients: M233V which exists in exon7 of ABCA1 gene and it's cDNA location is A1092G and converse 233 amino acid from Methionine to Valeric. We further collected the blood samples from 16 family members of one proband and M233V polymorphism was found in 5 out 16 family members.


CONCLUSIONS
M233V is a novel polymorphism in the ATP-binding cassette transporter A1 gene and this AG genotype had family proneness.
Guo
Zhi-Gang
ZG
Department of Cardiology, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China. guodoctor@hotmail.com
Wang
Qi-Guang
QG
Lai
Wen-Yan
WY
Zha
Zheng
Z
Liu
Ya-Yang
YY
Wu
Ping-Sheng
PS
D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000368:Aged; D044466:Asian People / Q000235:genetics; D002681:China / Q000453:epidemiology; D003324:Coronary Artery Disease / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide
C577836:ABCA1 protein, human; D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters