Institute for Mummy Studies, Eurac Research, Bolzano, Italy.
German Archaeological Institute, Department of Natural Sciences, Berlin, Germany.
Int J Paleopathol. 2021 Jun;33:182-187. doi: 10.1016/j.ijpp.2021.04.009. Epub 2021 May 7.
Review of the current advancements in the field of paleogenetics that provide new opportunities in studying the evolution of rare genetic bone diseases.
Based on cases from the literature, the genetics of rare bone diseases will be introduced and the main methodological issues will be addressed, focusing on the opportunities presented by the application of aDNA analyses in the field of paleopathology.
Medical literature provides large datasets on the genes responsible for rare bone disorders. These genes, subdivided in functional categories, display important future targets when analyzing rare genetic bone disorders in ancient human remains.
Knowledge on both phenotype and genotype is required to study rare diseases in ancient human remains.
The proposed interdisciplinary research will provide new insight into the occurrence and spread of genetic risk factors in the past and will help in the diagnostics of these rare and often neglected diseases.
The current limitations in ancient DNA research and targeting the disease-causing specific mutations (e.g., somatic or germline).
Methodological advancements and candidate gene lists provide the optimal basis for future interdisciplinary studies of rare genetic bone disorders in ancient human remains.
综述古遗传学领域的最新进展，为研究罕见遗传性骨病的进化提供新的机会。
基于文献中的病例，介绍罕见骨病的遗传学，并重点探讨 aDNA 分析在古病理学领域应用所带来的机遇，解决主要方法学问题。
医学文献提供了大量与罕见骨紊乱相关基因的数据集。这些基因按功能类别细分，在分析古代人类遗骸中罕见的遗传性骨紊乱时，是重要的未来靶标。
研究古代人类遗骸中的罕见疾病需要同时了解表型和基因型。
拟议的跨学科研究将为过去遗传风险因素的发生和传播提供新的见解，并有助于这些罕见且常被忽视的疾病的诊断。
目前古 DNA 研究存在局限性，且难以针对致病特定突变（如体细胞或种系突变）进行靶向研究。
方法学进展和候选基因列表为未来在古代人类遗骸中开展罕见遗传性骨病的跨学科研究提供了最佳基础。
