江西地区畲族人群pcsk9基因变异的SNaPshot分析  

SNaPshot Analysis of Variants in Pcsk9 Gene in Jiangxi She Population

作　　者：杨家大[1] 漆小凤[2] 司小刚[1] 吴声榕[2] 桂晓敏[1] 

机构地区：[1]井冈山大学医学院,江西省吉安市343000 [2]井冈山大学护理学院,江西省吉安市343000

出　　处：《医学分子生物学杂志》2011年第3期235-239,共5页Journal of Medical Molecular Biology

基　　金：江西省教育厅科技计划项目（No.GJJ10208）

摘　　要：目的 研究江西地区畲族人群pcsk9基因SNP位点的变异,为开展冠心病风险研究提供可借鉴的资料.方法 通过SNaPshot法对84例畲族人外周血DNA pcsk9基因外显子7个SNP位点进行分型,ABI 3730XL扫描分型结果.结果 7个SNP位点中,仅rs505151A/G位点检测到基因变异,其G基因的频率为0.036.结论 江西地区畲族人群pcsk9基因7个SNP位点的基因型频率和等位基因频率与国内外其他民族间均存在一定差异,提示畲族人群可能具有独特的冠心病风险标记位点及变异特征.本研究为开展畲族人群pcsk9基因的冠心病风险关联性研究提供了参考依据.Objective In order to gain data of CHD （coronary heart disease） risk of She population in Jiangxi area, variants of 7 SNPs in exons of pcsk9 gene were analyzed. Methods Genotypes were determined using SNaPshot and results were displayed with ABI 3730XL in 84 men. Results Among 7 SNPs, rs505151A/G was detected as the only variant, with the frequency of O. 036. Conclusion There were some differences of genotype frequencies and allele frequencies in 7 SNPs of pcsk9 gene between Jiangxi She people and the other ethnic populations. This implies that there may be distinct SNP markers and variant features of CHD risk in Jiangxi She population. Our study provides documents for research of the relationship between CHD risk and pcsk9 variation in the She people.

关 键 词：PCSK9 基因变异 畲族 SNAPSHOT 动脉粥样硬化症 

分 类 号：R394.3[医药卫生—医学遗传学]