广西人群miR-155基因rs767649T/A位点基因多态性研究

Genetic polymorphism of miR-155 gene rs767649T/A in Guangxi population

目的研究miR-155基因rs767649T/A位点的基因多态性在广西人群中的分布,分析比较其等位基因和基因型在不同地区不同种族间的分布差异。方法采用单碱基延伸法PCR技术(PCR-SEB)以及DNA测序法对298例广西籍受试者的rs767649T/A位点进行基因多态性检测分析。并与人类基因组计划(Hap Map)中公布的不同种族的基因多态性分型数据进行比较。结果在广西人群中,rs767649T/A位点表现出TT、AT、AA 3种基因型,分布频率分别为41. 9%、47. 0%、11. 1%,T、A等位基因频率分别为65. 4%和34. 6%。其基因型及等位基因分布与性别无关,差异无统计学意义(P> 0. 05)。与Hap Map公布的欧洲人、非洲人基因型数据比较,广西人群与上述地区人群的基因型和等位基因频率差异均有统计学意义(P <0. 01)。而与北京人、日本人相比,广西人群与二者的基因型差异无统计学意义(P> 0. 05);与北京人等位基因频率差异无统计学意义(P> 0. 05),但与日本人的等位基因频率差异有统计学意义(P <0. 05)。结论广西人群中存在miR-155基因rs767649T/A位点的基因多态性,其多态性的分布在不同地区人群中存在显著差异。

Objective Based on the study of the frequencies of allele and genotype distribution of miR-155 gene rs767649 T/A in Chinese Guangxi population,and to analyze the frequency distinctions among different ethnics and regions. Methods Polymerase chain reaction-single base extension( PCR-SBE) technique and DNA sequencing were used to test the allele and genotype frequencies of miR-155 gene rs767649 T/A among 298 participants from Chinese Guangxi population. Those were compared with other populations from Human Genome Project group( Hap Map) data.Results The miR-155 gene rs767649 T/A showed three genotypes TT,AT and AA,with the frequencies of 41. 9%,47. 0% and 11. 1%,respectively. Its allele frequencies of T and A were 65. 4% and 34. 6%,respectively. There was no statistically significant difference between genders in each genotype and allele frequency in the Guangxi population( P >0. 05). Compare with Hap Map-YRI and Hap Map-CEU populations,the frequencies of allele and genotype of miR-155 gene rs767649 T/A were significantly different( P < 0. 01). There was no statistical significance of the genotype frequency between Guangxi population and Hap Map-HCB or Hap Map-JPT( P > 0. 05). There was no significant difference in frequency of allele between Guangxi population and Hap Map-HCB( P > 0. 05),but significant difference in the frequency of allele was revealed between Guangxi population and Hap Map-JPT( P < 0. 05). Conclusion There is miR-155 gene rs767649 T/A polymorphism in Guangxi population,which is significant different with other races and regions.