miR-181基因rs16927589位点单核苷酸多态性在中国广西人群中的分布特点

Distribution character of SNP at rs16927589 locus of miR-181 gene in Guangxi population of China

目的分析miR-181基因rs16927589位点单核苷酸多态性(single nucleotide polymorphism,SNP)在中国广西地区人群中的分布特点,并比较其基因型和等位基因频率与其他种族和地区人群间的分布差异。方法采用SNa Pshot SNP技术和DNA测序技术检测299例中国广西人群rs16927589位点SNPs,用统计学方法分析其基因型和等位基因频率与国际人类基因组单体型图(Haplotype map,Hap Map)计划公布的北京人群(Hap Map-HCB)、日本人群(Hap Map-JPT)、肯尼亚人群(Hap Map-LWK)、印度人群(Hap Map-GIH)及欧洲人群(Hap Map-CEU)间的差异。结果中国广西人群存在miR-181基因rs16927589多态性,有TT、TC和CC三种基因型,其频率分别为73.6%、25.4%和1.0%,含T和C两种等位基因,频率分别为86.3%和13.7%,两者男女组间比较差异无统计学意义(P>0.05);与HapMap-HCB人群比较差异无统计学意义(P>0.05),但与Hap Map-GIH、Hap Map-LWK、Hap Map-JPT及Hap Map-CEU比较差异均有统计学意义(P<0.05或0.01)。结论在中国广西人群存在miR-181基因rs16927589多态性,且在不同地域和种族人群间比较存在差异。不同种族和地区人群SNP差异可能是miR-181基因相关疾病在临床表现和发病率不同的重要因素之一。

Objective To analyze the distribution character of （single nucleotide polymorphism,SNP） at rs16927589 locus of miR-181 gene in Guangxi population of China,and to compare the genotypes and allele fi＇equencies of them with those of other races and regions.Methods SNaPshot SNP and DNA sequencing were used to detect SNPs at rs16927589 loci in 299 Guangxi population of China.And statistical method was used to analyze differences of genotypes and allele fi＇equencies between Guangxi population, HapMap-HCB, HapMap-JPT, HapMap-LWK, HapMap-GIH and HapMap-CEU published by （ Haplotype map,HapMap）.Results There was rs16927589 polymorphism of miR-181 gene in Guangxi population of China. There were three genotypes （ TT, TC and CC ） , the fi＇equencies of which were 73.6%, 25.4% and 1.0%, respectively, and there were two allels（T and C） , the fi＇equencies of which were 86.3% and 13.7%, respectively.Difference of genotypes and al- lele fi＇equencies of rs16927589 polymorphism between men and women was statistically significant （P〉 0.05 ） , difference between Guangxi population and HapMap-HCB was not statistically significant（ P〉0.05 ）, but that between Guangxi population, HapMap-GIH,HapMap-LWK,HapMap-JPT and HapMap-CEU was statistically significant（ P〈0.05 or 0.01 ）.Conclusion Rs16927589 polymorphism of miR-181 gene exists in Guangxi population of China,and there are differences between varied regions and ethnic groups.The difference of SNP in varied ethnic groups and regions may be one of the important factors of different clinical manifestations and morbidity of miR-181 gene related diseases.