河南汉族人群21个常染色体短串联重复序列基因座的遗传多态性检测  

Genetic polymorphism detection of 21 autosomal short tandem repeat loci in Henan Han population

作　　者：康冰[1,2,3,4,5] 王鑫 吴东[1,2,3,4,5] 王红丹 何淼[1,2,3,4,5] 苏俊祥[1,2,3,4,5] 张波 刘俢铭[1,2,3,4,5] 廖世秀 KANG Bing;WANG Xin;WU Dong;WANG Hongdan;HE Miao;SU Junxiang;ZHANG Bo;LIU Xiuming;LIAO Shixiu(Medical Genetic Institute of Henan Province,Henan Provincial People′s Hospital,Zhengzhou 450003;Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics,Zhengzhou 450003;Key Laboratory of Birth Defects Prevention,National Health Commission,Zhengzhou 450003;Medical Genetic Institute,the People′s Hospital,Zhengzhou University,Zhengzhou 450003;Medical Genetic Institute,the People′s Hospital,Henan University,Zhengzhou 450003)

机构地区：[1]河南省人民医院河南省医学遗传研究所,郑州450003 [2]河南省遗传性疾病功能基因组重点实验室,郑州450003 [3]国家卫生健康委出生缺陷预防重点实验室,郑州450003 [4]郑州大学人民医院医学遗传研究所,郑州450003 [5]河南大学人民医院医学遗传研究所,郑州450003

出　　处：《郑州大学学报（医学版）》2020年第3期430-434,共5页Journal of Zhengzhou University(Medical Sciences)

摘　　要：目的:调查河南地区汉族人群21个短串联重复序列(STR)基因座的遗传多态性,并对该21个STR基因座的检测效能进行验证。方法:选取河南地区304例汉族无关个体,使用GoldeneyeTM DNA身份鉴定系统22NC对D4S2366等21个常染色体STR基因座多态性进行检测,用Genemapper ID-X软件进行基因分型,统计各基因座遗传学参数。选取21例二联体和存在突变位点的亲权鉴定对GoldeneyeTM DNA身份鉴定系统进行检测验证。结果:21个常染色体STR基因座的基因频率分布均符合Hardy-Weinberg平衡(P>0.05)。21个STR基因座在304例河南汉族无关个体中的个体识别率介于0.8510~0.9670,多态性信息含量介于0.6600~0.8600,观察杂合度介于0.1120~0.2680,期望杂合度介于0.7320~0.8880,非父排除率介于0.4800~0.7710,典型父权指数介于1.9200~4.4700。对二联体和存在突变位点的亲权鉴定利用GoldeneyeTM DNA身份鉴定系统进行检测,均能得出明确的结论。结论:GoldeneyeTM DNA身份鉴定系统22NC扩增体系所包含的21个常染色体STR在河南汉族人群中具有高度多态性,该鉴定系统可用于河南汉族群体的亲子鉴定、个体识别以及DNA数据库建设。Aim:To investigate the genetic polymorphism of 21 short tandem repeat(STR)loci in Henan Han population,and to validate the detection efficiency of 21 STR loci.Methods:GoldeneyeTM DNA identification system 22NC was used to detect the genomic polymorphism of 304 unrelated individuals of Han nationality in Henan Province.Genemapper ID-X software was used for genotyping and the genetic parameters of each locus were counted.The paternity test of 21 cases using dimers and mutant sites was performed to verify the results of GoldeneyeTM DNA identification system 22NC.Results:The frequencies of 21 autosomal STR loci were in accordance with Hardy-Weinberg equilibrium(P>0.05).The power of discrimination of 21 STR loci was between 0.8510 and 0.9670,the polymorphism information content was between 0.6600 and 0.8600,the observed heterozygosity was between 0.1120 and 0.2680,the expected heterozygosity was between 0.7320 and 0.8880,the power of exclusion was between 0.4800 and 0.7710,and the typical paternity index was between 1.9200 and 4.4700.The paternity test using dimers and mutant sites could be verified by the GoldeneyeTM DNA identification system 22NC,and clear conclusions could be drawn.Conclusion:The 21 autosomal STR contained in the 22NC amplification system of GoldeneyeTM DNA identification system are highly polymorphic in Henan Han population.The identification system could be used for paternity testing,individual identification and DNA database construction of Henan Han population.

关 键 词：短串联重复序列 遗传多态性 群体遗传学 河南 汉族 

分 类 号：R89[医药卫生—法医学]