Inkret Jezerka, Zupanič Pajnič Irena
Institute of Forensic Medicine, Faculty of Medicine, University of Ljubljana, Korytkova 2, 1000 Ljubljana, Slovenia.
Genes (Basel). 2025 Jul 24;16(8):872. doi: 10.3390/genes16080872.
This review paper presents a comprehensive overview of DNA preservation in hard tissues (bones and teeth) for applications in forensic and archaeogenetic analyses. It presents bone structure, DNA location in bones and teeth, and extensive information about postmortem DNA location and preservation. Aged bones are a challenging biological material for DNA isolation due to their low DNA content, degraded DNA, and the potential presence of PCR inhibitors. In addition, the binding of DNA to the mineral matrix necessitates the inclusion of a demineralization process in extraction, and its contribution to the resulting increase in both DNA quality and quantity is explained. Guidelines and recommendations on bone sample selection to obtain higher DNA yields are discussed in terms of past, recent, and possible future recommendations. Interskeletal and intraskeletal differences in DNA yield are also explained. Recent studies have shown that current recommendations for the genetic identification of skeletal remains, including femurs, tibias, and teeth, may not be the most effective sampling approach. Moreover, when mass disasters and mass graves with commingled skeletal remains are considered, there is a greater possibility that the recommended set of skeletal elements will not be available for sampling and subsequent genetic testing. This review highlights interskeletal and intraskeletal variability in DNA yield, with a focus on studies conducted on poorly preserved skeletal remains, including both postwar (1945) victims from Slovenia and ancient human skeletons. Special emphasis is placed on anatomical differences and potential mechanisms influencing DNA preservation, as demonstrated in research on both modern and historical skeletons. Finally, the petrous part of the temporal bone and tooth cementum were reviewed in greater detail because they have been recognized as an optimal sampling type in both ancient DNA studies and routine forensic case analyses. Our experiences with the Second World War and archaeological petrous bones are discussed and compared to those of other bone types.
这篇综述文章全面概述了硬组织（骨骼和牙齿）中的DNA保存情况，以用于法医和考古遗传学分析。文章介绍了骨骼结构、DNA在骨骼和牙齿中的位置，以及关于死后DNA位置和保存的广泛信息。由于老化骨骼的DNA含量低、DNA降解且可能存在PCR抑制剂，因此对于DNA分离而言，它们是具有挑战性的生物材料。此外，DNA与矿物质基质的结合使得在提取过程中必须包含脱矿质过程，并解释了其对DNA质量和数量增加的作用。从过去、近期以及未来可能的建议等方面讨论了关于选择骨骼样本以获得更高DNA产量的指南和建议。还解释了不同骨骼间和同一骨骼内DNA产量的差异。近期研究表明，目前对于包括股骨、胫骨和牙齿在内的骨骼遗骸进行基因鉴定的建议，可能不是最有效的采样方法。此外，当考虑到有混合骨骼遗骸的大规模灾难和乱葬岗时，推荐的一组骨骼元素更有可能无法用于采样和后续的基因检测。这篇综述强调了不同骨骼间和同一骨骼内DNA产量的变异性，重点关注对保存不佳的骨骼遗骸所进行的研究，包括来自斯洛文尼亚的战后（1945年）受害者和古代人类骨骼。特别强调了解剖学差异以及影响DNA保存的潜在机制，这在对现代和历史骨骼的研究中都有体现。最后，对颞骨的岩部和牙骨质进行了更详细的综述，因为它们在古代DNA研究和常规法医案件分析中都被认为是最佳的采样类型。我们讨论了在第二次世界大战和考古岩骨方面的经验，并与其他骨骼类型的经验进行了比较。
