Institute of Forensic Medicine, Faculty of Medicine, University of Ljubljana, Korytkova 2, 1000, Ljubljana, Slovenia.
Centre for Interdisciplinary Research in Archaeology, Department of Archaeology, Faculty of Arts, University of Ljubljana, Ljubljana, Slovenia.
Sci Rep. 2023 Nov 22;13(1):20463. doi: 10.1038/s41598-023-47836-9.
When subadult skeletons need to be identified, biological sex diagnosis is one of the first steps in the identification process. Sex assessment of subadults using morphological features is unreliable, and molecular genetic methods were applied in this study. Eighty-three ancient skeletons were used as models for poorly preserved DNA. Three sex-informative markers on the Y and X chromosome were used for sex identification: a qPCR test using the PowerQuant Y target included in PowerQuant System (Promega), the amelogenin test included in ESI 17 Fast STR kit (Promega), and a Y-STR amplification test using the PowerPlex Y-23 kit (Promega). Sex was successfully determined in all but five skeletons. Successful PowerQuant Y-target, Y-amelogenin, and Y-chromosomal STR amplifications proved the presence of male DNA in 35 skeletons, and in 43 subadults female sex was established. No match was found between the genetic profiles of subadult skeletons, and the elimination database and negative control samples produced no profiles, indicating no contamination issue. Our study shows that genetic sex identification is a very successful approach for biological sexing of subadult skeletons whose sex cannot be assessed by anthropological methods. The results of this study are applicable for badly preserved subadult skeletons from routine forensic casework.
当需要鉴定未成年骨骼时,生物性别诊断是鉴定过程中的第一步。使用形态特征对未成年人进行性别评估是不可靠的,本研究应用了分子遗传学方法。使用 83 具保存不佳的 DNA 骨骼模型进行研究。使用三个性染色体上的性别信息标记进行性别鉴定:使用 PowerQuant System 中的 PowerQuant Y 靶标进行 qPCR 测试(Promega)、ESI 17 Fast STR 试剂盒中的 amelogenin 测试(Promega)和 PowerPlex Y-23 试剂盒进行 Y-STR 扩增测试(Promega)。除了五具骨骼外,所有骨骼的性别都成功确定。成功的 PowerQuant Y 靶标、Y-amelogenin 和 Y 染色体 STR 扩增证明了 35 具骨骼中存在男性 DNA,而在 43 具未成年骨骼中则确定了女性性别。未成年骨骼的遗传特征与消除数据库和阴性对照样本没有匹配,表明没有污染问题。我们的研究表明,遗传性别鉴定是一种非常成功的方法,可用于通过人类学方法无法评估性别的未成年骨骼的生物性别鉴定。本研究的结果适用于常规法医工作中保存不佳的未成年骨骼。