王春芳 雷茗 庞晓霞 黄华佗 王俊利 韦贵将 韦叶生

【摘要】目的分析miR181基因rs16927589位點单核苷酸多态性（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，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（P>0.05）；与HapMapHCB人群比较差异无统计学意义（P>0.05），但与HapMapGIH、HapMapLWK、HapMapJPT及HapMapCEU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miR181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.issn.10031383.2018.02.001

Distribution character of SNP at rs16927589 locus 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 rs16927589 locus 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 rs16927589 loci 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 rs16927589 polymorphism 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 frequencies of rs16927589 polymorphism between men and women was statistically significant（P>0.05），difference between Guangxi population and HapMapHCB was not statistically significant（P>0.05），but that between Guangxi population，HapMapGIH，HapMapLWK，HapMapJPT and HapMapCEU was statistically significant（P<0.05 or 0.01）.ConclusionRs16927589 polymorphism of miR181 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 miR181 gene related diseases.

【Key words】miR181 gene；SNP；race

microRNA（miRNA）是一类长度约为22 nt的调控性小分子，作为非编码家族的新成员之一，没有开放阅读框架，但在细胞增殖、分化、发育、代谢和应激等过程中具有多种生物学行为[1]。多数学者认为单核苷酸多态性与系统性红斑狼疮（SLE）的发生存在遗传易感性，并与其表达存在相关性[2～4]。病例研究发现，primiR34b/c rs4938723 SNP显著增加了宫颈癌发病的风险[4]。miR143/145启动子区rs4705342 SNP显著降低了缺血性脑卒中的发病风险[3]。miR181通过影响T细胞、B细胞发育等在SLE发生和发展中起着至关重要的作用，如导致免疫复合物清除能力下降、细胞凋亡增加[5～7]。但至今miR181基因多态性与SLE的遗传易感性研究尚未见报道。本研究采用SNaPshot SNP分型和DNA测序技术对中……