冠心病患者ABCA1基因全部编码区SNP的检测及意义

目的检测112例冠心病患者ABCA1基因全部编码区的单核苷酸多态性（SNP）。方法通过聚合酶链反应．单链构象多态性分析结合银染后胶回收、DNA测序和限制性内切酶酶切分析方法检测112例明确冠心病诊断患者的ABCA1基因全部编码区50个外显子的SNP。结果我国冠心病病人群中存在着国内外均已报道的R219K和M883I两个位点SNP的改变，并在外显子7中发现了国内外均未见报道的A1092G新碱基位点的改变，并导致氨基酸改变为M233V，通过108例正常人限制性内切酶酶切分析方法证实其为SNP。结论我国冠心病病人群中不仅存在着已报道的R219K、M883I位点SNP，并首次发现存在新的M233V位点SNP。新SNP位点M233V型ABCA1基因可能增加冠心病的危险性，其功能学研究需进一步流行病学调查证实。

Detection of single nucletide polymorphism of all coding regions in ABCA1 gene in patients with coronary heart disease

Objective To study single nucletide polymorphism (SNP) of all the coding region in ABCA 1 gene in 112 patients with coronary heart diseases. Methods With polymerase chain reaction-single-strand conformation polymorphism (PCR-SS-CP) 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 ABCA 1 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 ABCA 1 gene. This variation may increase the risks for coronary heart diseases, and its exact function awaits examination in further epidemiologic survey.