广西地区健康人群miR-221基因rs2858060C/G遗传多态性及其分布特征  

Genetic polymorphism and distribution characteristics of miR-221 gene rs2858060C/G in a Guangxi healthy population

作　　者：黄晶晶 龚嘉琳 韦叶生[2] 向阳[2] Huang Jingjing;Gong Jialin;Wei Yesheng;Xiang Yang(Udergraduate of Grade 2015,College of Medical Laboratory Science,Youjiang Medical University for Nationalities,Baise 533000,Guangxi,China;Department of Clinical Laboratory,Affiliated Hospital of Youjiang Medical University for Nationalities,Baise 533000,Guangxi,China)

机构地区：[1]右江民族医学院医学检验学院,广西百色533000 [2]右江民族医学院附属医院检验科,广西百色533000

出　　处：《右江民族医学院学报》2018年第5期414-417,共4页Journal of Youjiang Medical University for Nationalities

基　　金：国家自然科学基金(81260234,81560552);2015年广西研究生创新课题(YCSZ2015221);右江民族医学院校级课题(yy2015ky003)

摘　　要：目的研究miR-221基因rs2858060C/G单核苷酸多态性(SNP)各等位基因及基因型在广西地区健康人群中的频率分布,比较其与欧洲人群、非洲人群、日本人群及北京人群之间的分布差异。方法采用单碱基延伸的PCR技术和基因测序法检测450例右江民族医学院附属医院正常体检者的miR-221基因rs2858060C/G单核苷酸多态性,结合文献与人类基因组计划已经公布的4组人群的miR-221基因型及等位基因的频率分布进行比较分析。结果在广西健康人群中miR-221基因rs2858060位点分别有CC、CG、GG三种基因型,其中以CC基因型多见,占74.00%,C等位基因频率最高,占81.33%。基因型和等位基因的频率分布在男女间的差异无统计学意义(P均>0.05),说明多态性分布与性别无关。与人类基因组计划公布的欧洲人群、北京人群、日本人群及非洲人群的SNPs分型数据比较发现,广西地区健康人群miR-221基因rs2858060C/G位点频率分布与这四个地区人群的基因多态性分布的差异都具有统计学意义(基因型χ~2分别为12.708、198.214、179.586和49.799,等位基因χ~2分别为20.214、306.588、126.462和71.606,P均<0.001)。结论广西地区健康人群中存在miR-221基因rs2858060C/G基因多态性,其基因多态性在男女间的频率分布差异无显著性,但与其他种族人群比较存在显著性差异。这种差异对于与miR-221相关的疾病及遗传方面的研究可能起重要作用。Objective To study allele and genotype frequency distribution in single nucleotide polymorphism(SNP)of miR-221 gene rs2858060C/G in Guangxi healthy population,and to compare their frequency distribution with HapMap-CEU,HapMap-YRI,HapMap-JPT and HapMap-HCB populations,respectively.Methods The miR-221 gene rs2858060C/G SNP detection was performed by using single base extension PCR technique and DNA sequencing for 450 individuals who received health examination in the Affiliated Hospital of Youjiang Medical University for Nationalities.The frequency distributions of miR-221 genotypes and alleles from Guangxi healthy population were compared with those of the 4 mentioned above populations published in the Hap-Map database and the analysis was also performed by literature review. Results The rs2858060C/G locus of miR-221 gene presented with three genotypes of CC,CG and GG in Guangxi healthy population,and CC genotype was more common among them,accounting for 74.00%;the highest frequency was C allele,accounting for 81.33%.The comparison of genotype and allele frequency distribution between male and female showed that there were no significant differences(all P>0.05),indicating that the distribution of polymorphism was not related to sex.Compared with SNPs typing data from HapMap-CEU,HapMap-HCB,HapMap-JPT and HapMap-YRI populations published by the Human Genome Project,it was found that the frequency distribution of miR-221 gene rs2858060C/G locus in Guangxi population was significantly different from these four populations(the genotypeχ2 was 12.708,198.214,179.586 and 49.799,respectively,and the alleleχ2 was 20.214,306.588,126.462 and 71.606,respectively,all P<0.001). Conclusion There is miR-221 gene rs2858060C/G polymorphism in Guangxi healthy population,and no significant difference in the frequency distribution of miR-221 gene polymorphism between male and female,but there is significant difference compared with other populations.This difference may play an important role in the study on miR-221-related diseases a

关 键 词：MIR-221 rs2858060位点 基因多态性 单核苷酸 大陆人口群 

分 类 号：R394.5[医药卫生—医学遗传学]