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MicroreaderTM 23HS Plex ID System中23个常染色体STR基因座在中国北方汉族人群中多态性调查OACSTPCD

Polymorphism Investigation of 23 Autosome STR Loci in the MicroreaderTM 23HS Plex ID System in Han Population in Northern China

中文摘要英文摘要

目的 评价MicroreaderTM 23HS Plex ID System试剂盒中包含的23 个常染色体STR基因座在中国北方汉族人群中等位基因频率分布,获得群体遗传数据,探究其在法医学中的应用价值.方法 使用MicroreaderTM 23HS Plex ID System试剂盒对中国北方汉族人群 548 例无关样本DNA进行检测,收集分型数据,计算各基因座的等位基因频率、样本的杂合度(heterozygosity,H)、这些常染色体STR基因座的多态信息含量(polymorphism information content,PIC)、个体识别力(power of discrimination,DP)和非父排除率(probability of paternity exclusion,PE)并使用统计软件对各基因座是否符合Hardy-Weinberg平衡进行检验;同时对MicroreaderTM 23HS Plex ID System的累积个体识别能力(CDP)和累积非父排除率(CPE)进行计算.结果 在548 例无关样本中 23 个 STR基因座共计检出 260 个等位基因,等位基因频率为 0.0009~0.5902,H为0.611~0.885,PIC为 0.577~0.864,DP为 0.815~0.973(平均DP为 0.922),PE为 0.089~0.406,CDP=1-3.663×10-27,CPE=1-2.668×10-16,所有基因座等位基因的分布符合Hardy-Weinberg平衡.结论 MicroreaderTM 23HS Plex ID System的 23 个基因座在中国北方汉族人群中具有良好的多态性,在法医学个人识别、群体遗传学研究、亲子鉴定,特别是复杂亲缘关系鉴定中应用价值较高.

Objective To obtain the distribution of allele frequency and population genetic data of 23 autosomal STR loci contained in the MicroreaderTM 23HS Plex ID System kit in the Han population of northern China,and explore its application value in forensic medicine.Methods The MicroreaderTM 23HS Plex ID System kit was used to detect the DNA of 548 unrelated samples which from the Han population in northern China.Then,the allele frequencies,heterozygosity(H)in the samples,polymorphism information content(PIC),power of discrimi-nation(DP),and probability of paternity exclusion(PE)were calculated and Hardy-Weinberg equilibrium was tested on each locus based on the genotyping data of 548 samples we collected.The cumulative individual identification ability(CDP)and cumulative non-paternity exclusion rate(CPE)of the MicroreaderTM 23HS Plex ID System were also calculated.Results A total of 260 alleles were detected in 548 unrelated samples from 23 STR loci which conformed to Hardy-Weinberg equilibrium.And the alleles frequencies ranged from 0.0009 to 0.5902,H ranged from 0.611 to 0.885,PIC ranged from 0.577 to 0.864,DP ranged from 0.815 to 0.973(mean DP was 0.922)and PE ranged from 0.089 to 0.406.At the same time,the CDP of MicroreaderTM 23HS Plex ID System was 1-3.663×10-27 and CPE was 1-2.668×10-16.Conclusion The 23 loci of MicroreaderTM 23HS Plex ID System have a good polymorphism in the north Chinese Han population,and have high application value in population genetics research,forensic personal identification,paternity testing and complex kinship identification.

石妍;江坚;陈冲;张京晶;贾莉;高知枭;李惠芬;严江伟;任贺

北京通达首诚司法鉴定所,北京 100192福建南方司法鉴定中心,福建 福州 350000北京华彦科技有限公司司法鉴定所,北京 100192苏州阅微基因技术有限公司,江苏 苏州 215000山西医科大学法医学院,山西 晋中 030600北京警察学院刑事科学技术系,北京 102202

政治法律

法医遗传学遗传多态性STR基因座

Forensic geneticsGenetic polymorphismSTR loci

《昆明医科大学学报》 2024 (007)

154-159 / 6

上海市法医学重点实验室司法部司法鉴定重点实验室开放课题(KF202011)

10.12259/j.issn.2095-610X.S20240723

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