目的探讨广西人群miR-196a2 T〉C(rs11614913)等位基因及基因型频率分布情况,分析其与不同民族种族之间的差异性。方法利用单碱基延伸PCR技术(polymerase chain reactionsingle base extension,PCR-SBE)和DNA测序技术,检测303例广西人群中miR-196a2 T〉C的基因型,并比较其与人类基因组计划(human genome project,Hapmap)数据库中公布的非洲人、欧洲人、日本人和中国北京人群的单核苷酸多态性(single nucleotide polymorphisms,SNP)数据,揭示这5个不同民族种族人群的等位基因及基因型频率分布规律。结果 miR-196a2T〉C等位基因和基因型频率在广西男女间分布无差异性(P〉0.05)。广西人群miR-196a2 T〉C多态性基因型及等位基因频率与非洲人、欧洲人、日本人比较有统计学差异意义(P〈0.05),但与北京人群无差异性(P均〉0.05)。结论广西人群miR-196a2T〉C存在基因多态性,与别的民族种族人群比较有明显的差异性,这种差异性对于基因组水平上疾病的研究可能会起到积极重要作用。
Objective To study the frequencies of allele and genotype distribution of miR-196a2T〈C(rs11614913)gene,and to analyze the statistical differences between different races and nationalities.Methods The gene of single nucleotide polymorphisms(SNP) miR- 196a2T〈C were detected using polymerase chain reaction-single base extension(PCR-SBE)technique and DNA sequencing methods in 303 Chinese Guangxi populations,and compared with differences SNPs date among the European,African,Japanese and Chinese populations in Beijing from the human genome project(Hap Map),and the distribution of allele and genotype frequencies of 5 nationalities were revealed. Results There were no statistical differences of allele and genotype distribution in miR-196a2T〈C between female and male group(P〉0.05).There were significantly different frequencies of allele and genotype distributions of miR- 196a2 T〈C when compared with Europeans,Africans and Japanese,but no statistical differences when compared with Chinese in Beijing from China. Conclusion There were significant differences in allele frequencies and genotype distributions of the gene polymorphism miR-196a2TC when compared with other racial and nationalities,and this difference in genome level may play a positive role in the research of disease.