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Comparative performance between 'next generation' multiplex systems and the new European Standard Set of STR markers in the Portuguese Population

机译:葡萄牙人口中“下一代”多路复用系统与新的STR标记欧洲标准集之间的比较性能

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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.
机译:司法鉴定领域的主要商业公司已经开发了各种多重STR系统,以符合最近建立的全球欧洲标记标准集(ESS)。在各种可用的替代方案中,我们的实验室决定测试最新的ESSplex Plus系统(Qiagen)和NGM试剂盒(Life Technologies),它们共享相同的15个STR位点,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人口和隔离研究,目的是在常规法医案件中引入ESS标记。为此共采样了370个人,包括120个真实的三重奏(125个父亲,125个母亲和120个儿子/女儿)。葡萄牙人口中的五个新基因座均未检测到与Hardy-Weinberg平衡的偏差,并且试剂盒之间未观察到基因型不一致。取证的参数表明,在五个ESS标记中,D1S1656在我们的样本中提供的信息最多。比较我们实验室中可用的所有常染色体多重检测系统(ESSplex Plus,NGM,Identifiler Plus和Powerplex 16 HS)的性能,发现带有ESS标记的多重检测试剂盒通常显示出更好的性能,其中,ESSplex Plus检测试剂盒显示略微的性能。更高的灵敏度和更好的降解DNA信息检测。

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