Forensic Genetics Unit, Institute of Legal Medicine, Grupo de Medicina Xenómica, Universidade de Santiago de Compostela, Spain.
Forensic Sci Int Genet. 2014 Jan;8(1):36-43. doi: 10.1016/j.fsigen.2013.07.006. Epub 2013 Sep 7.
Supplementary short tandem repeats (STRs) can be added to forensic analyses if the 15-24 core STRs in routine use fail to give sufficient discrimination power in complex identification or relationship testing scenarios. In this study, 10 of 12 supplementary STRs in the Qiagen Investigator HDplex kit (SE33, D2S1360, D3S1744, D4S2366, D5S2500, D6S474, D7S1517, D8S1132, D10S2325, D21S2055) were genotyped in 941 individuals from the 51 populations of the CEPH Human Genome Diversity Panel (HGDP-CEPH). The other two components of the 12-STR HDplex kit are established STRs D12S391 and D18S51 that we previously genotyped for the HGDP-CEPH panel. We describe the rare alleles identified and outline allele frequency distributions in the seven population groups of the HGDP-CEPH panel. The HDplex STRs novel to forensic application were found to be both highly informative and comparable in their power across all populations studied: at least six of the nine loci showing above average forensic discrimination power in each population group. In some rare instances certain low frequency alleles in D2S1360 were found to overlap in mobility with the neighbouring allele size ranges of D12S391, as well as those of D7S1517 with neighbouring D3S1744 and D10S2325 with neighbouring SE33. Lastly, since expanded five-dye multiplex kits of 20 STRs (Promega Powerplex 21) and 22 STRs (Promega Powerplex Fusion) have recently been introduced, we assess through simulations the increased power to analyse pairwise relationships in deficient pedigrees that can be expected from an optimum kit pair: combining HDplex with either of the above sets to provide 30 or 32 unique STRs and just two overlapping loci.
如果在复杂的鉴定或关系测试场景中，常规使用的 15-24 个核心 STR 未能提供足够的鉴别力，可以在法医分析中添加补充短串联重复序列 (STR)。在这项研究中，我们对来自 CEPH 人类基因组多样性面板 (HGDP-CEPH) 的 51 个人群中的 941 个人进行了 Qiagen Investigator HDplex 试剂盒中的 12 个补充 STR（SE33、D2S1360、D3S1744、D4S2366、D5S2500、D6S474、D7S1517、D8S1132、D10S2325、D21S2055）的基因分型。我们之前为 HGDP-CEPH 面板对 12-STR HDplex 试剂盒的另外两个组件 D12S391 和 D18S51 进行了基因分型。我们描述了鉴定出的稀有等位基因，并概述了 HGDP-CEPH 面板七个群体的等位基因频率分布。对于法医应用来说，新的 HDplex STR 不仅高度信息丰富，而且在所有研究人群中的功效相当：在每个群体中，至少有九个位点中的六个显示出高于平均的法医鉴别力。在某些罕见情况下，D2S1360 中的某些低频等位基因在迁移方面与相邻的 D12S391、D7S1517 与 D3S1744 和 D10S2325 与 SE33 的相邻等位基因大小范围重叠。最后，由于最近推出了扩展的五染料 20 个 STR（Promega Powerplex 21）和 22 个 STR（Promega Powerplex Fusion）的五染料多重试剂盒，我们通过模拟评估了从最佳试剂盒组合中可以预期的在缺乏谱系分析中分析成对关系的增强能力：将 HDplex 与上述两种试剂盒之一结合，提供 30 或 32 个独特的 STR 和仅两个重叠的基因座。
