Objective To investigate the distribution of the polymorphisms rs1491033A/C and rs1813389A/G in the promoter region of the miR-17-92 gene cluster in a normal population of Guangxi and compare this distribution with that in different ethnic groups. Methods We detected the genotypes of rs1491033A/C and rs1813389A/G of 275 people from Guangxi using the SNaPshot technique and DNA sequencing. We then analyzed the genotype and allele frequency distribution differences among different genders and groups. Results Three genotypes,AA,AC,and CC,were found for rs1491033A/C with frequency distributions of 21. 1％,53. 1％,and 25. 8％, respectively. There were significant differences in genotype and allele frequencies of rs1491033A/C between the Guangxi population and those of Europe and Africa,as published in the International HapMap project (P < 0. 05). Three genotypes,AA,AG,and GG were observed for rs1813389A/G with frequency distributions of 40. 0％,50. 2％,and 9. 8％,respectively. There were significant differences in the genotype and allele frequencies of rs1813389A/G between the Guangxi population and those of Europe,Beijing,Japan,and Africa (P <0. 05). However,there were no significant differences in genotype or allele frequencies of the rs1491033A/C or rs1813389A/G polymorphisms between genders in the Guangxi population (P > 0. 05). Conclusion There are different distributions of the rs1491033A/C and rs1813389A/G polymorphisms in the miR-17-92 gene cluster in different races and regions.%目的 探讨广西正常人群中miR-17-92基因簇启动子区的rs1491033A/C位点和rs1813389A/G位点多态性分布特点,比较其在不同人群间的分布差异.方法 采取多重单碱基延伸法(SNaPshot)和DNA测序结合的方法对275例广西人群rs1491033A/C和rs1813389A/G位点进行基因分型检测,并分析其基因型和等位基因频率在不同性别及组间分布差异.结果 rs1491033A/C存在 AA、AC、CC 3种基因型,分布频率分别为21. 1％、53. 1％、25. 8％,其基因型和等位基因与人类基因组计划项目公布的欧洲和非洲人群的差异有统计学意义(P < 0. 05);rs1813389A/G存在AA、AG、GG 3种基因型,分布频率分别为40. 0％、50. 2％、9. 8％,其基因型和等位基因频率与欧洲、北京、日本和非洲人群的差异均有统计学意义(P < 0. 05);而两位点基因型及等位基因频率在广西人群的不同性别间均无统计学差异(P > 0. 05).结论 miR-17-92基因簇rs14911033A/C和rs1813389A/G位点多态性在不同种族和地区间存在着不同程度差异.
展开▼
