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坚如磐石——基于CE和MPS对岩骨作为难以辨认的颅骨法医鉴定DNA来源的分析比较

As solid as a rock-comparison of CE- and MPS-based analyses of the petrosal bone as a source of DNA for forensic identification of challenging cranial bones.

作者信息

Kulstein Galina, Hadrys Thorsten, Wiegand Peter

机构信息

Institute of Legal Medicine, Ulm University Hospital, Albert-Einstein-Allee 23, 89081, Ulm, Germany.

Institute of Forensic Sciences, DNA department, Bavarian State Criminal Police Office, Maillingerstr. 15, 80636, Munich, Germany.

出版信息

Int J Legal Med. 2018 Jan;132(1):13-24. doi: 10.1007/s00414-017-1653-z. Epub 2017 Jul 28.

Abstract

Short tandem repeat (STR) typing from skeletal remains can be a difficult task. Dependent on the environmental conditions of the provenance of the bones, DNA can be degraded and STR typing inhibited. Generally, dense and compact bones are known to preserve DNA better. Several studies already proved that femora and teeth have high DNA typing success rates. Unfortunately, these elements are not present in all cases involving skeletal remains. Processing partial or singular skeletal elements, it is favorable to select bone areas where DNA preservation is comparably higher. Especially, cranial bones are often accidentally discovered during criminal investigations. The cranial bone is composed of multiple parts. In this examination, we evaluated the potential of the petrous bone for human identification of skeletal remains in forensic case work. Material from different sections of eight unknown cranial bones and-where available-additionally other skeletal elements, collected at the DNA department of the Institute of Legal Medicine in Ulm, Germany, from 2010 to 2017, were processed with an optimized DNA extraction and STR typing strategy. The results highlight that STR typing from the petrous bones leads to reportable profiles in all individuals, even in cases where the analysis of the parietal bone failed. Moreover, the comparison of capillary electrophorese (CE) typing to massively parallel sequencing (MPS) analysis shows that MPS has the potential to analyze degraded human remains and is even capable to provide additional information about phenotype and ancestry of unknown individuals.

摘要

对骨骼遗骸进行短串联重复序列(STR)分型可能是一项艰巨的任务。取决于骨骼来源的环境条件,DNA可能会降解,STR分型也会受到抑制。一般来说,致密紧实的骨骼能更好地保存DNA。多项研究已证明,股骨和牙齿的DNA分型成功率很高。不幸的是,在所有涉及骨骼遗骸的案例中并非都存在这些部位。在处理部分或单个骨骼元素时,最好选择DNA保存相对较好的骨区。特别是,颅骨在刑事调查中经常会意外发现。颅骨由多个部分组成。在本研究中,我们评估了岩骨在法医案件工作中用于人类骨骼遗骸身份鉴定的潜力。从2010年到2017年,在德国乌尔姆法医学研究所DNA部门收集的8块未知颅骨不同部位的材料,以及(如有)其他骨骼元素,采用优化的DNA提取和STR分型策略进行处理。结果表明,即使在顶骨分析失败的情况下,对岩骨进行STR分型也能在所有个体中得到可报告的图谱。此外,毛细管电泳(CE)分型与大规模平行测序(MPS)分析的比较表明,MPS有潜力分析降解的人类遗骸,甚至能够提供有关未知个体表型和祖先的额外信息。

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