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首页> 外文期刊>Forensic science international. Genetics >The HIrisPlex-S system for eye, hair and skin colour prediction from DNA: Introduction and forensic developmental validation
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The HIrisPlex-S system for eye, hair and skin colour prediction from DNA: Introduction and forensic developmental validation

机译：来自DNA的眼睛，毛发和肤色预测的Hirisplex-S系统：引入和法医发育验证

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Forensic DNA Phenotyping (FDP), i.e. the prediction of human externally visible traits from DNA, has become a fast growing subfield within forensic genetics due to the intelligence information it can provide from DNA traces. FDP outcomes can help focus police investigations in search of unknown perpetrators, who are generally unidentifiable with standard DNA profiling. Therefore, we previously developed and forensically validated the IrisPlex DNA test system for eye colour prediction and the HIrisPlex system for combined eye and hair colour prediction from DNA traces. Here we introduce and forensically validate the HIrisPlex-S DNA test system (S for skin) for the simultaneous prediction of eye, hair, and skin colour from trace DNA. This FDP system consists of two SNaPshot-based multiplex assays targeting a total of 41 SNPs via a novel multiplex assay for 17 skin colour predictive SNPs and the previous HIrisPlex assay for 24 eye and hair colour predictive SNPs, 19 of which also contribute to skin colour prediction. The HIrisPlex-S system further comprises three statistical prediction models, the previously developed IrisPlex model for eye colour prediction based on 6 SNPs, the previous HIrisPlex model for hair colour prediction based on 22 SNPs, and the recently introduced HIrisPlex-S model for skin colour prediction based on 36 SNPs. In the forensic developmental validation testing, the novel 17-plex assay performed in full agreement with the Scientific Working Group on DNA Analysis Methods (SWGDAM) guidelines, as previously shown for the 24-plex assay. Sensitivity testing of the 17-plex assay revealed complete SNP profiles from as little as 63 pg of input DNA, equalling the previously demonstrated sensitivity threshold of the 24-plex HIrisPlex assay. Testing of simulated forensic casework samples such as blood, semen, saliva stains, of inhibited DNA samples, of low quantity touch (trace) DNA samples, and of artificially degraded DNA samples as well as concordance testing, demonstrated the robustness, efficiency, and forensic suitability of the new 17-plex assay, as previously shown for the 24-plex assay. Finally, we provide an update to the publically available HIrisPlex website ) https://hirisplex.erasmusmc.nl/, now allowing the estimation of individual probabilities for 3 eye, 4 hair, and 5 skin colour categories from HIrisPlex-S input genotypes. The HIrisPlex-S DNA test represents the first forensically validated tool for skin colour prediction, and reflects the first forensically validated tool for simultaneous eye, hair and skin colour prediction from DNA.
机译：法医DNA表型（FDP），即来自DNA的人外部可见性状的预测，由于其可以提供从DNA痕迹提供的智能信息，因此在法医遗传学中成为一种快速生长的子场。 FDP成果可以帮助重点警察调查寻找未知的肇事者，他们通常与标准DNA分析概不完全。因此，我们以前开发并对眼睛颜色预测的IRISPLEX DNA测试系统和用于从DNA痕迹组合的眼睛和毛发颜色预测的Hirisplex系统进行了开发和致力于验证的IRISPLEX DNA测试系统。在这里，我们介绍并对皮肤，头发和肤色的同时预测痕量DNA来介绍并致力于验证皮肤的Hirisplex-S DNA测试系统。该FDP系统由两种基于快照的多重测定组成，通过新的多重测定为17个肤色预测SNP和前一个Hirisplex测定的24只眼睛和毛发颜色预测Snps，其中19个，其中19种也有助于肤色预言。 HIRISPLEX-S系统还包括三种统计预测模型，基于6个SNP的先前开发了用于眼睛颜色预测的IRISPLEX模型，基于22个SNP的头发颜色预测的先前的HIRISPLEM模型，最近引入了皮肤颜色的HIRISPLE-S模型基于36个SNP的预测。在法医发育验证测试中，新的17-Plex测定与DNA分析方法（SWGDAM）指南的科学工作组完全一致，如前面所示的24-plex测定。 17-plex测定的敏感性测试显示完全的SNP型材从小到63 pg输入DNA，等于先前显示的24-Plex Hirisplex测定的灵敏度阈值。测试模拟的法医案例样本，如血液，精液，唾液污渍，抑制的DNA样品，低量触摸（痕量）DNA样品和人工降解的DNA样品以及一致性测试，证明了鲁棒性，效率和法医新的17-plex测定的适用性如前面所示的24-plex测定。最后，我们为公开可用的Hirisplex网站提供更新）https://hirisplex.erasmusmc.nl/，现在允许从Hirisplex-s输入基因型中估计3只眼睛，4头发和5个肤色类别的个别概率。 HiRISPLEX-S DNA测试代表了用于肤色预测的第一验证工具，并反映来自DNA的同时眼睛，头发和肤色预测的第一验证工具。

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