[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.

Conclusion: M233V is a novel polymorphism in the ATP-binding cassette transporter A1 gene and this AG genotype had family proneness.