Key Laboratory of Evidence Science (China University of Political Science and Law), Ministry of Education, Beijing, 100088, China.
Institute of Forensic Medicine, West China School of Basic Medical Sciences & Forensic Medicine, Sichuan University, Chengdu, 610041, China.
Genes Genomics. 2023 Oct;45(10):1229-1238. doi: 10.1007/s13258-023-01387-5. Epub 2023 Apr 20.
As a powerful complement to the paradigmatic DNA profiling strategy, biogeographical ancestry inference (BGAI) plays a significant part in human forensic investigation especially when a database hit or eyewitness testimony are not available. It indicates one's biogeographical profile based on known population-specific genetic variations, and thus is crucial for guiding authority investigations to find unknown individuals. Forensic biogeographical ancestry testing exploits much of the recent advances in the understanding of human genomic variation and improving of molecular biology.
In this review, recent development of prospective ancestry informative markers (AIMs) and the statistical approaches of inferring biogeographic ancestry from AIMs are elucidated and discussed.
We highlight the research progress of three potential AIMs (i.e., single nucleotide polymorphisms, microhaplotypes, and Y or mtDNA uniparental markers) and discuss the prospects and challenges of two methods that are commonly used in BGAI.
While BGAI for forensic purposes has been thriving in recent years, important challenges, such as ethics and responsibilities, data completeness, and ununified standards for evaluation, remain for the use of biogeographical ancestry information in human forensic investigations. To address these issues and fully realize the value of BGAI in forensic investigation, efforts should be made not only by labs/institutions around the world independently, but also by inter-lab/institution collaborations.
作为范例 DNA 分析策略的有力补充,生物地理祖籍推断(BGAI)在人类法医调查中起着重要作用,特别是在没有数据库命中或目击者证词的情况下。它根据已知的人群特异性遗传变异来指示一个人的生物地理概况,因此对于指导当局调查以找到未知个体至关重要。法医生物地理祖籍测试利用了对人类基因组变异的理解和分子生物学的改进的最新进展。
本文阐述并讨论了从 AIM 推断生物地理祖籍的潜在前瞻性祖籍信息标记(AIM)和统计方法的最新发展。
我们重点介绍了三种潜在的 AIM(即单核苷酸多态性、微单倍型和 Y 或 mtDNA 单亲标记)的研究进展,并讨论了 BGAI 中常用的两种方法的前景和挑战。
虽然近年来法医 BGAI 蓬勃发展,但在人类法医调查中使用生物地理祖籍信息仍存在重要挑战,例如伦理和责任、数据完整性以及评估的不统一标准。为了解决这些问题并充分实现 BGAI 在法医调查中的价值,不仅需要世界各地的实验室/机构独立努力,还需要实验室/机构之间的合作。