Institute of Forensic Medicine, Faculty of Medicine, University of Ljubljana, Korytkova 2, 1000 Ljubljana, Slovenia.
Genes (Basel). 2023 Jul 14;14(7):1449. doi: 10.3390/genes14071449.
It is very important to generate phenotypic results that are reliable when processing chronological old skeletal remains for cases involving the identification of missing persons. To improve the success of pigmentation prediction in Second World War victims, three bones from each of the eight skeletons analyzed were included in the study, which makes it possible to generate a consensus profile. The PowerQuant System was used for quantification, the ESI 17 Fast System was used for STR typing, and a customized version of the HIrisPlex panel was used for PCR-MPS. The HID Ion Chef Instrument was used for library preparation and templating. Sequencing was performed with the Ion GeneStudio S5 System. Identical full profiles and identical hair and eye color predictions were achieved from three bones analyzed per skeleton. Blue eye color was predicted in five skeletons and brown in three skeletons. Blond hair color was predicted in one skeleton, blond to dark blond in three skeletons, brown to dark brown in two skeletons, and dark brown to black in two skeletons. The reproducibility and reliability of the results proved the multisample analysis method to be beneficial for phenotyping chronological old skeletons because differences in DNA yields in different bone types provide a greater possibility of obtaining a better-quality consensus profile.
在处理涉及失踪人员身份识别的陈旧骨骼案例时，生成可靠的表型结果非常重要。为了提高对第二次世界大战受害者色素预测的成功率，从分析的 8 具骨骼中的每具骨骼中选取了 3 块骨头纳入研究，这使得生成共识图谱成为可能。采用 PowerQuant 系统进行定量分析，ESI 17 Fast 系统进行 STR 分型，采用定制版的 HIrisPlex 试剂盒进行 PCR-MPS。采用 HID Ion Chef Instrument 进行文库制备和模板制备。测序采用 Ion GeneStudio S5 系统进行。从每具骨骼的 3 块骨头分析中获得了相同的完整图谱和相同的头发和眼睛颜色预测结果。预测有 5 具骨骼的眼睛颜色为蓝色，3 具骨骼的眼睛颜色为棕色。预测有 1 具骨骼的头发颜色为金色，3 具骨骼的头发颜色为浅金色到深金色，2 具骨骼的头发颜色为棕色到深棕色，2 具骨骼的头发颜色为深棕色到黑色。结果的可重复性和可靠性证明了多样本分析方法对表型陈旧骨骼的有益性，因为不同骨型中的 DNA 产量差异提供了获得更好质量共识图谱的更大可能性。
