The HIrisPlex-S system for eye, hair and skin colour prediction from DNA: Introduction and forensic developmental validation
The HIrisPlex-S system for eye, hair and skin colour prediction from DNA: Introduction and forensic developmental validation
复制标题
DOI：
10.1016/j.fsigen.2018.04.004
复制
发表时间：
2018-07-01
影响因子：
3.1
通讯作者：
Walsh, Susan
中科院分区：
文献类型：
--
作者：
Chaitanya, Lakshmi;Breslin, Krystal;Walsh, Susan
法医DNA表型分析(FDP)，即从DNA中预测人类外部可见的特征，由于它可以从DNA痕迹中提供情报信息，已经成为法医遗传学中一个快速增长的分支领域。FDP的结果可以帮助警方集中调查，寻找不明身份的肇事者，这些人通常无法通过标准的DNA图谱确定。因此，我们之前开发并法医验证了IrisPlex DNA测试系统用于眼睛颜色预测，以及HIrisPlex系统用于根据DNA痕迹联合预测眼睛和头发的颜色。在这里，我们介绍和法医验证HIrisPlex-S DNA测试系统(S皮肤)，用于从微量DNA同时预测眼睛、头发和肤色。这个FDP系统包括两个基于快照的多重分析，通过针对17个肤色预测SNP的新型多重分析针对总共41个SNPs，以及针对24个眼睛和头发颜色预测SNPs的HIrisPlex分析，其中19个SNP也有助于肤色预测。HIrisPlex-S系统还包括三个统计预测模型，先前开发的基于6个SNP的眼睛颜色预测的IrisPlex模型，先前基于22个SNP的头发颜色预测的HIrisPlex模型，以及最近推出的基于36个SNP的肤色预测的HIrisPlex-S模型。在法医发展验证测试中，新的17-plex检测完全符合DNA分析方法科学工作组(SWGDAM)的指导方针，如先前24-plex检测所示。17-plex检测的敏感性测试显示，仅从63pg的输入DNA就可以获得完整的SNP图谱，与之前证明的24-plex HIrisPlex检测的敏感性阈值相等。对血液、精液、唾液污渍等模拟法医案件样本、被抑制的DNA样本、少量接触(微量)DNA样本和人工降解的DNA样本的测试，以及一致性测试，证明了新的17-plex分析的稳健性、效率和法医适用性，正如先前为24-plex分析所显示的那样。最后，我们提供了公开可用的HIrisPlex网站(https://hirisplex.erasmusmc.nl/，)的更新，现在可以从HIrisPlex-S输入基因中估计3个眼睛、4个头发和5个肤色类别的个体概率。HIrisPlex-S DNA测试是第一个经过法医验证的肤色预测工具，也是第一个通过DNA同时预测眼睛、头发和肤色的法医验证工具。
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.