Detection of single nucleotide polymorphism of all coding regions in ABCA1 gene in patients with coronary heart disease / 南方医科大学学报

ABSTRACT

<p><b>OBJECTIVE</b>To study single nucleotide polymorphism (SNP) of all the coding region in ABCA1 gene in 112 patients with coronary heart diseases.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSIONS</b>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.</p>