广西人群EPCR基因3'-非编码区rs9574C/G位点的多态性

摘要

Purpose To compare the difference of the genotype and allele of endothelial cell protein C receptor (EPCR)gene rs9574 C/G between Guangxi population and other ethnic groups.Methods The rs9574 C/G polymorphisms of EPCR in 130 cases of Guangxi population were detected by PCR and DNA sequencing.The distribution frequency of allele and genotype was compared with the other four ethnic groups (HapMap-CEU,HapMap-HCB,HapMap-JPT,HapMap-YRI),which was published by the human genome project.Results Three genotypes of CC,CT and TT were found in rs9574 C/G with the frequencies of 39.2％,46.2％,14.6％ respectively.the allele frequencies of C,T were 62.3％ and 37.7％.No significant difference was observed in the frequency of genotype and allele between male and female (P ＞ 0.05).There were significant differences in the genotype distribution among Guangxi population,HapMap-CEU and HapMap-YRI (P ＜ 0.05).Significant differences of allelic frequency were found among Guangxi population,HapMap-CEU,HapMap-JPT and HapMap-YRI.Condusion The polymorphisms of rs9574C/G in 3'-noncoding region of EPCR gene in Guangxi population were different in different regions and ethnic groups.%目的 探讨广西地区健康人群与不同地区、种族人群的内皮细胞蛋白C受体(endothelial cell protein C receptor,EPCR)基因rs9574 C/G(4678 C/G)位点多态性分布频率的差异.方法 通过单碱基延伸的PCR技术及DNA测序法检测130例广西正常体检人群EPCR基因3'-非编码区rs9574 C/G基因型及等位基因型频率,并对比分析其与中国北京人、非洲人、日本人和欧洲人的基因型及等位基因型频率分布差异.结果 广西地区健康人群EPCR基因rs9574 C/G位点存在三种基因型,分布频率分别为CC(39.2％)、CG(46.2％)、GG(14.6％),等位基因频率分别为C(62.3％)、G(37.7％).rs9574 C/G位点基因型及等位基因型分布频率在男女组间相比差异无统计学意义(P＞0.05).广西人群rs9574 C/G位点基因型分布频率与欧洲人和非洲人相比差异有统计学(P＜0.05),而与日本人、中国北京人相比差异无统计学意义(P＞0.05);等位基因分布频率与非洲人、欧洲人和日本人相比差异有统计学意义(P＜0.05),而与中国北京人相比,差异无统计学意义(P＞0.05).结论 广西地区人群EPCR基因3'-非编码区rs9574 C/G位点多态性在不同地区、种族人群间的分布频率存在差异.