【摘要】 目的:探讨298例广西正常人群miRNA-181a基因rs16927589位点单核苷酸多态性(SNPs)分布特征,对比研究各种族人群间的分布差异,进一步研究rs16927589位点SNP与血脂水平的相关性。方法:使用DNA测序技术和单碱基延伸聚合酶链反应(PCR)技术检测298例广西正常人rs16927589位点的基因型及等位基因频率,用7600生化仪检测298例广西正常人的血脂相关指标,并用统计学软件分别比较rs16927589位点多态性在各种族人群间的分布差异和各基因型携带者的血脂水平差异。结果:广西人群rs16927589位点有TT、CT和CC三种基因型,其频率分布为73. 49%、25. 50%和1. 01%;不同性别组之间的广西人群对比发现,该位点基因型及等位基因频率分布差异没有统计学意义(P>0. 05);该位点基因型与人类基因组单体型图(Hap Map)所公布的非洲人、欧洲人、印度人和日本人相比较,差异有统计学意义(P<0. 05),与北京人比较,差异没有统计学意义(P>0. 05); rs16927589位点三种基因型人群血脂之间比较,携带CC基因型人群的胆固醇(TC)与TT、CT组比较,差异有统计学意义(P<0. 05),携带TT基因型人群的三酰甘油(TG)与CT组比较,差异有统计学意义(P<0. 05)。结论:rs16927589位点多态性在不同种族人群之间分布有差异;广西人群中rs16927589位点多态性与血清总胆固醇(TC)水平和三酰甘油(TG)水平有关。更多还原

【Abstract】 Objective: To investigate the distribution characteristics of miRNA-181 a gene rs16927589 polymorphisms in Guangxi population and compare the distribution differences among different ethnic groups,further to explore the relationship between rs16927589 polymorphism and blood lipid level. Methods: SNa Pshot technique and DNA sequencing were used to examine the genotypes and allele frequencies of miRNA-181 a of 298 healthy individuals in Guangxi,the lipid-related parameters was were detected by7600 biochemical analyzer,and the differences of rs16927589 polymorphism among different ethnic groups and differences of blood lipid level in different genotypes were analyzed using statistical software. Results: Three genotypes of TT,CT and CC were found in rs16927589 with the frequencies distribution of 73. 49%,25. 50% and 1. 01%,respectively,no significant difference between different sexes of each genotype and allele frequency in the Guangxi population was observed( P>0. 05). Compared with the distribution frequencies of genotype in Hap Map-YRI,Hap Map-CEU,Hap Map-GIH and Hap Map-JPT,those in Guangxi population showed statistically significant differences( P< 0. 05),no significant difference between Hap Map-HGB and Guangxi population( P> 0. 05); When compared the blood lipid level among three genotypes in rs16927589,we found that there were significant differences in the level of TC between CC and TT/CT( P<0. 05),in addition,difference of TG level existed between TT genotype and CT genotype( P<0. 05).Conclusion:There are differences of rs16927589 polymorphisms in different ethnic groups,the polymorphism of rs16927589 is associated with the level of TC and TG in Guangxi.更多还原