Microreader^(TM)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

Polymorphism Investigation of 23 Autosome STR Loci in the Microreader^(TM) 23HS Plex ID System in Han Population in Northern China

目的评价Microreader^(TM)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Microreader^(TM)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Microreader^(TM)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Microreader^(TM)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 Microreader^(TM) 23HS Plex ID System kit in the Han population of northern China,and explore its application value in forensic medicine.Methods The Microreader^(TM) 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 discrimination(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 Microreader^(TM) 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 Microreader^(TM) 23HS Plex ID System was 1-3.663×10^(-27) and CPE was 1-2.668×10^(-16).Conclusion The 23 loci of Microreader^(TM) 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.