title: [A novel polymorphism in the ATP-binding cassette transporter A1 gene (M233V) in Chinese patients with coronary artery disease].
abstract: 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.
authors.affiliation: Department of Cardiology, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China. guodoctor@hotmail.com
authors.forename: Zhi-Gang
authors.initials: ZG
authors.lastname: Guo
authors.forename: Qi-Guang
authors.initials: QG
authors.lastname: Wang
authors.forename: Wen-Yan
authors.initials: WY
authors.lastname: Lai
authors.forename: Zheng
authors.initials: Z
authors.lastname: Zha
authors.forename: Ya-Yang
authors.initials: YY
authors.lastname: Liu
authors.forename: Ping-Sheng
authors.initials: PS
authors.lastname: Wu
mesh_terms: 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
chemical_list: C577836:ABCA1 protein, human; D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters