Abstract：
In the last few years, predicting externally visible characteristics (EVCs) by adopting informative DNA molecular markers has become a method in forensic genetics that has increased its value, giving rise to an interesting field called \"Forensic DNA Phenotyping\" (FDP). The most meaningful forensic applications of EVCs prediction are those in which, having only a DNA sample isolated from highly decomposed remains, it is essential to reconstruct the physical appearance of a person. Through this approach, we set out to evaluate 20 skeletal remains of Italian provenance in order to associate them with as many cases of missing persons as possible. To achieve the intended goal, in this work we applied the HIrisPlex-S multiplex system through the conventional short tandem repeats (STR) method to confirm the expected identity of subjects by evaluating phenotypic features. To investigate the reliability and accuracy of the DNA-based EVCs prediction, pictures of the cases were compared as they were available to researchers. Results showed an overall prediction accuracy greater than 90% for all three phenotypic features-iris, hair, and skin colour-at a probability threshold of 0.7. The experimental analysis showed inconclusive results in only two cases; this is probably due to the characteristics of subjects who had an intermediate eye and hair colour, for which the DNA-based system needs to improve the prediction accuracy.
摘要：
在过去的几年里，通过采用信息DNA分子标记预测外部可见特征（EVC）已成为法医遗传学中增加其价值的方法，产生了一个有趣的领域，称为“法医DNA表型”（FDP）。EVC预测最有意义的取证应用是，只有从高度分解的遗骸中分离出的DNA样本，重建一个人的外表是至关重要的。通过这种方法，我们着手评估20具意大利来源的骨骼遗骸，以便将它们与尽可能多的失踪人员案件联系起来。为了达到预定的目标,在这项工作中,我们通过常规短串联重复(STR)方法应用HIrisPlex-S多重系统,通过评估表型特征来确认受试者的预期身份.为了研究基于DNA的EVC预测的可靠性和准确性，病例的图片进行了比较，因为他们是提供给研究人员。结果显示，对于所有三个表型特征-虹膜，头发,和肤色-概率阈值为0.7。实验分析仅在两种情况下显示出不确定的结果；这可能是由于受试者的眼睛和头发颜色中等的特征，为此，基于DNA的系统需要提高预测精度。
