miR181基因rs16927589位点单核苷酸多态性在中国广西人群中分布特点.docVIP

miR181基因r点单核苷酸多态性在中国广西人群中分布特点 　　【摘要】目的分析miR181基因r?c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SNaPshot SNP技术和DNA测序技术检测299例中国广西人群r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，HapMap）计划公布的北京人群（HapMapHCB）、日本人群（HapMapJPT）、肯尼亚人群（HapMapLWK）、印度人群（HapMapGIH）及欧洲人群（HapMapCEU）间的差异。结果中国广西人群存在miR181基因r态性，有TT、TC和CC三种基因型，其频率分别为73.6%、25.4%和10%，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（P0.05）；与HapMapHCB人群比较差异无统计学意义（P0.05），但与HapMapGIH、HapMapLWK、HapMapJPT及HapMapCEU比较差异均有统计学意义（P0.05或0.01）。结论在中国广西人群存在miR181基因r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miR181基因相关疾病在临床表现和发病率不同的重要因素之一。 　　【关键词】miR181基因；单核苷酸多态性；种族 　　中图分类号：R394 文献标识码：ADOI：10.3969/j.issn2018.02.001 　　Distribution character of SNP at rlocus of 　　miR181 gene in Guangxi population of China 　　WANG Chunfang，LEI Ming，PANG Xiaoxia，HUANG Huatuo，WANG Junli，WEI Guijiang，WEI Yesheng 　　（Department of Laboratory Medicine，Affiliated Hospital of Youjiang Medical University for Nationalities，Baise 533000，China） 　　【Abstract】ObjectiveTo analyze the distribution character of （single nucleotide polymorphism，SNP） at rlocus of miR181 gene in Guangxi population of China，and to compare the genotypes and allele frequencies of them with those of other races and regions.MethodsSNaPshot SNP and DNA sequencing were used to detect SNPs at rloci in 299 Guangxi population of China.And statistical method was used to analyze differences of genotypes and allele frequencies between Guangxi population，HapMapHCB，HapMapJPT，HapMapLWK，HapMapGIH and HapMapCEU published by （Haplotype map，HapMap）.ResultsThere was rpolymorphism of miR181 gene in Guangxi population of China.There were three genotypes（TT，TC and CC），the frequencies of which were 73.6%， 25.4% and 1.0%，respectively，and there were two allels（T and C），the frequencies of which were 86.3% and 13.7%，respectively.Difference of genotypes and allele freq