Department of Biology, Faculty of Sciences, University of Porto, Portugal; IPATIMUP, Institute of Molecular Pathology and Immunology of the University of Porto, Portugal.
Forensic Sci Int Genet. 2014 Jan;8(1):137-42. doi: 10.1016/j.fsigen.2013.08.015. Epub 2013 Sep 8.
Various multiplex STR systems have been developed by the major commercial companies in the forensic genetics field to comply with the recent establishment of the global European Standard Set (ESS) of markers. Of the various alternatives available, our laboratory decided to test the recent ESSplex Plus system (Qiagen) and the NGM kit (Life Technologies), which share the same 15 STR loci and comprise the most recently established ESS markers (D1S1656, D2S441, D10S1248, D12S391 and D22S1045). Apart from evaluating the kits' technical performances, a population and segregation study was carried out on a Portuguese sample, with the aim of introducing the ESS markers in routine forensic casework. A total of 370 individuals were sampled for this purpose, comprising 120 true trios (125 fathers, 125 mothers and 120 sons/daughters). No deviations from Hardy-Weinberg equilibrium were detected for the five new loci in the Portuguese population and no genotyping inconsistencies were observed between kits. Parameters of forensic interest revealed that, of the five ESS markers, D1S1656 was the most informative in our sample. Comparison of performances between all autosomal multiplex systems available in our laboratory (ESSplex Plus, NGM, Identifiler Plus and Powerplex 16 HS), revealed that the multiplex kits with the ESS markers generally showed better performances and, among these, the ESSplex Plus kit showed slightly higher sensitivity and a better detection of degraded DNA information.
各种多重 STR 系统已经由法医遗传学领域的主要商业公司开发出来,以符合最近建立的全球欧洲标准组(ESS)的标记。在各种可用的选择中,我们的实验室决定测试最近的 ESSplex Plus 系统(Qiagen)和 NGM 试剂盒(Life Technologies),它们共享相同的 15 个 STR 基因座,并包含最近建立的 ESS 标记(D1S1656、D2S441、D10S1248、D12S391 和 D22S1045)。除了评估试剂盒的技术性能外,还对葡萄牙样本进行了群体和分离研究,旨在将 ESS 标记引入常规法医案件工作中。为此,共采集了 370 名个体的样本,其中包括 120 个真实的三亲家庭(125 个父亲、125 个母亲和 120 个儿子/女儿)。在葡萄牙人群中,五个新基因座未检测到哈迪-温伯格平衡偏离,两个试剂盒之间也未观察到基因分型不一致。法医感兴趣的参数表明,在我们的样本中,五个 ESS 标记中,D1S1656 是最具信息量的。对我们实验室中所有常染色体多重系统(ESSplex Plus、NGM、Identifiler Plus 和 Powerplex 16 HS)的性能进行比较后发现,带有 ESS 标记的多重试剂盒通常表现出更好的性能,而在这些试剂盒中,ESSplex Plus 试剂盒显示出稍高的灵敏度和更好的降解 DNA 信息检测能力。