【摘要】 目的 研究miR-365基因rs30230C/T位点多态性在广西人群的分布特征，并在不同种族人群比较其位点基因型和基因频率的分布差异。方法 选用SNPscan分型技术，对464名广西健康体检者miR-365基因rs30230C/T位点的基因型进行检测，并与千人基因组计划（Hapmap）公布的北京汉族人群（CHB）、欧洲人群（CEU）、日本人群（JPT）和非洲尼日利亚人群（YRI）miR-365基因多态性数据进行比较。结果 rs30230C/T位点的基因型遵循Hardy-Weinberg遗传平衡定律，样本人群具有代表性意义。rs30230C/T位点存在CC、TC、TT 3种基因型。在广西人群中，miR-365基因rs30230C/T位点存在CC(63.1%)、TC(32.3%)、TT(4.5%)3种基因型；C、T的等位基因频率分别为79.3%、20.7%。该位点的各基因型及等位基因频率分别在男女组间差异无统计学意义（χ~2=1.423、1.385,P>0.05）。广西人群中的rs30230C/T位点基因型与NCBI(https：//www.ncbi.nlm.nih.gov/)公布的人类千人基因组计划的欧洲人群、非洲尼日利亚人群分型数据之间的比较，差异有统计学意义（χ~2=32.871、87.572,P<0.05）；其等位基因频率与欧洲人群、非洲尼日利亚人群比较，差异有统计学意义（χ~2=30.589、59.423,P<0.05），与北京汉族人群、日本人群相比，基因型和等位基因频率比较，差异无统计学意义（P>0.05）。结论 广西人群miR-365基因rs30230C/T基因位点多态性在不同种族人群和地区间存在不同程度的差异，这些差异对疾病的预防和控制研究有一定的借鉴意义。更多还原

【Abstract】 Objective To investigate the distribution characteristics of miR-365 gene rs30230C/T polymorphisms in Guangxi population and compare the differences of locus genotype and gene frequency in different ethnic groups. Methods SNPscan technique was used to detect genotypes of rs30230C/T in 464Guangxi population and compared with the miR-365 gene polymorphism data which were published by 1 000Genome Project,including CHB,CEU,JPT,and YRI. Results The genotype of the rs30230C/T locus followed the Hardy-Weinberg law of genetic equilibrium,and the sample population was representative. There are three genotypes of CC,TC and TT at the rs30230C/T locus. In Guangxi population,there were CC(63.1%),TC(32.3%),and TT(4.5%)genotypes at the rs30230C/T locus of miR-365 gene;the allele frequencies of C and T were 79.3% and 20.7%,respectively. The frequencies of genotype and allele distribution of rs30230C/T were not significantly different between genders（χ~2=1.423,1.385,P>0.05）. Comparison between rs30230C/T locus genotypes in Guangxi population and genotyping data of European and African Nigerian populations published by NCBI(https://www.ncbi.nlm.nih.gov/)from the Human 1000 Genomes Project,the difference was statistically significant（χ~2=32.871,87.572,P<0.05）;its allele frequency was significantly different from that of European population and African Nigerian population（χ~2=30.589,59.423,P<0.05）.There was no significant difference in genotype and allele frequency between Beijing Han population and Japanese population(P>0.05). Conclusion The rs30230C/T polymorphism of the miR-365 gene in Guangxi population varies to varying degrees among different ethnic groups and regions,which has certain reference significance for disease prevention and control research.更多还原