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作 者:刘纯宏 陆玉兰[1] 黄华佗 王艳 曾永龙[1] 王春芳[1] 罗斌[1] 蓝艳[2] 韦叶生 Liu Chunhong;Lu Yulan;Huang Huatuo;Wang Yan;Zeng Yonglong;Wang Chunfang;Luo Bin;Lan Yan;Wei Yesheng(Department of Laboratory Medicine;Department of Dermatology,Affiliated Hospital of Youjiang Medical University for Nationalities,Baise 533000;Department of Laboratory Medicine,Affiliated Hospital of Guilin Medical University,Guilin 541000,China)
机构地区:[1]右江民族医学院附属医院检验科,百色533000 [2]右江民族医学院附属医院皮肤科,百色533000 [3]桂林医学院附属医院检验科,桂林541000
出 处:《解剖学杂志》2019年第6期576-580,共5页Chinese Journal of Anatomy
基 金:国家自然科学基金(81560552);广西自然科学基金(2018GXNSFAA138120);广西重点研发课题(2018AB58018)
摘 要:目的:研究广西人群lncRNA-GAS5基因rs2235095G/A和rs2067079C/T单核苷酸多态性(SNPs)的分布特征,并比较其在不同地区人群中的分布差异.方法:采用SNPscan技术对289例广西人群rs2235095G/A和rs2067079C/T位点进行基因分型检测,并分析其基因型和等位基因频率与国际千人基因组计划数据库公布的欧洲(CEU)、日本(JPT)、尼日利亚(YRI)和中国南方汉族人群(CHS)的分布差异.结果:rs2235095G/A位点存在GG、AG和AA 3种基因型,分布频率分别为37.0%、47.4%和15.6%;rs2067079C/T位点存在CC、CT和TT 3种基因型,分布频率分别为63.0%、31.5%和5.5%.2个位点的基因型和等位基因频率在广西人群不同性别间比较差异均无统计学意义.rs2235095G/A基因型和等位基因频率与国际千人基因组计划数据库公布的CEU、JPT和YRI人群比较差异均有统计学意义;rs2067079C/T基因型和等位基因频率与YRI人群比较差异均有统计学意义.结论:广西人群lncRNA-GAS5基因rs2235095G/A和rs2067079C/T位点存在基因多态性,且其在不同人群间存在不同程度的差异.Objective:To investigate the distribution characteristics of lncRNA-GAS5 gene rs2235095G/A and rs2067079C/T single nucleotide polymorphisms(SNPs)in Guangxi population and compare their distribution differences with other ethnic groups.Methods:We used SNPscan technique to detect the genotypes of rs2235095G/A and rs2067079C/T in 289 Guangxi individuals,and analyzed the distribution differences of genotype and allele frequencies among Utah residents with Northern and Western European Ancestry(CEU),Japanese in Tokyo,Japan(JPT),Yoruba in Ibadan,Nigeria(YRI)and Southern Han Chinese,China(CHS)which were published by 1000 Genome Project.Results:Three genotypes(GG,AG and AA)were found for rs2235095G/A with frequency distributions of 37.0%,47.4%and 15.6%,respectively.Three genotypes(CC,CT and TT)were found for rs2067079C/T with frequency distributions of 63.0%,31.5%and 5.5%,respectively.No significant difference in genotype and allele frequencies between different genders in Guangxi population was observed.Compared with the SNP data of CEU,JPT,YRI and CHS published by the 1000 Genome Project,the genotype and allele frequencies of rs2235095G/A were significantly different from those of CEU,JPT and YRI.The genotype and allele frequencies of rs2067079C/T were significantly different from YRI population.Conclusion:There are lncRNA-GAS5 gene rs2235095G/A and rs2067079C/T polymorphisms in Guangxi population and the degree of dif ference varies among different populations.
关 键 词:lncRNA-GAS5 基因多态性 广西人群 SNPscan
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