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中国北方汉族12个X染色体短串联重复序列(X-STR)位点的群体遗传数据以及StatsX软件包作为X-STR群体统计学分析工具。

Population genetic data for 12 X-STR loci in the Northern Han Chinese and StatsX package as tools for population statistics on X-STR.

作者信息

Guo Fei

机构信息

Department of Forensic Medicine, National Police University of China, No. 83, Tawan Street, Huanggu District, Shenyang, Liaoning 110854, China.

出版信息

Forensic Sci Int Genet. 2017 Jan;26:e1-e8. doi: 10.1016/j.fsigen.2016.10.012. Epub 2016 Oct 24.

Abstract

The X-chromosomal short tandem repeat (X-STR) has the advantage in female traces identification against male contamination and in complex kinship cases. In this study, a total of 516 Northern Han Chinese were genotyped using the Investigator Argus X-12 QS Kit and pairwise genetic distances (F) were measured between Northern Han Chinese and 35 published populations using the same 12 X-STR loci in four presumed linkage groups (LG). Meanwhile, the StatsX package was compiled to aid the analysis of population statistics on X-STR. Off-ladder alleles were investigated by Sanger sequencing or next generation sequencing (NGS). The results showed that high combined PD, PD, MEC, MEC, MEC and MEC based on allele frequencies were achieved as 0.999999998, >0.999999999, 0.999996425, 0.999999993, 0.999999993 and 0.999998732, respectively, so did they based on haplotype frequencies. Averaged F and multidimensional scaling (MDS) plot generally mirrored with the biogeography distribution of the studied populations and their historical relationships. A total of 16 unique off-ladder alleles were observed in this experiment, four of which have not been reported yet. The StatsX package could obtain full concordance with established software. Overall, the Investigator Argus X-12 QS Kit may provide high polymorphic information for forensic identification and kinship analysis in the Northern Han Chinese population, and the StatsX package can make the workflow smoother for researchers to do population statistical analysis on X-STR.

摘要

X染色体短串联重复序列(X-STR)在识别女性痕迹以对抗男性污染以及复杂亲缘关系案件中具有优势。在本研究中,使用Investigator Argus X-12 QS试剂盒对516名中国北方汉族个体进行基因分型,并使用相同的12个X-STR基因座在四个假定的连锁群(LG)中测量中国北方汉族与35个已发表群体之间的成对遗传距离(F)。同时,编写了StatsX软件包以辅助X-STR群体统计分析。通过桑格测序或下一代测序(NGS)研究了非标准等位基因。结果表明,基于等位基因频率的高联合个体识别率(PD)、个体识别率(PD)、三联体亲权排除率(MEC)、三联体亲权排除率(MEC)、三联体亲权排除率(MEC)和三联体亲权排除率(MEC)分别达到0.999999998、>0.999999999、0.999996425、0.999999993、0.999999993和0.999998732,基于单倍型频率的情况也是如此。平均F值和多维尺度分析(MDS)图总体上反映了所研究群体的生物地理分布及其历史关系。在本实验中总共观察到16个独特的非标准等位基因,其中4个尚未见报道。StatsX软件包与已有的软件完全一致。总体而言,Investigator Argus X-12 QS试剂盒可为中国北方汉族人群的法医鉴定和亲缘关系分析提供高多态性信息,而StatsX软件包可使研究人员进行X-STR群体统计分析的工作流程更加顺畅。

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