Mitochondrial DNA Analysis in Population Isolates: Challenges and Implications for Human Identification
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Description
Purpose of Review
Mitochondrial DNA (mtDNA) plays an essential role in forensic science, aiding in human identification especially when dealing with degraded DNA samples or cases devoid of paternal family reference samples. Yet, the nuances of isolated populations, shaped by a small number of founders that separate from general populations due to factors such as cultural or geographic differences, and as such, often exhibit very different allele frequencies, pose challenges to its applicability.
Recent Findings
Recent investigations have determined that ignoring the presence of genetic isolates when performing forensic genetic analysis can introduce significant bias into the results ultimately leading to incorrect match probability estimates, increased false positives or false negatives, miscalculation of familial relationships, ethical and legal concerns, loss of public trust, and mistaken convictions or acquittals.
Summary
This paper offers a comprehensive review of the challenges and implications for human identification using mtDNA in isolated populations, focusing on population history and social factors; homogeneity of mtDNA; lack of representation in reference databases; and data interpretation and appropriate statistical methods.
Impact and interest:
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ID Code: | 248465 | ||||||
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Item Type: | Contribution to Journal (Journal Article) | ||||||
Refereed: | Yes | ||||||
ORCID iD: |
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Measurements or Duration: | 8 pages | ||||||
DOI: | 10.1007/s40610-023-00155-4 | ||||||
ISSN: | 2198-6428 | ||||||
Pure ID: | 167938484 | ||||||
Divisions: | Current > Research Centres > Centre for Genomics and Personalised Health Current > QUT Faculties and Divisions > Academic Division Current > QUT Faculties and Divisions > Faculty of Health Current > Schools > School of Biomedical Sciences |
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Funding Information: | Open Access funding enabled and organized by CAUL and its Member Institutions No funding was received to assist with the preparation of this manuscript. | ||||||
Copyright Owner: | 2023 The Authors | ||||||
Copyright Statement: | This work is covered by copyright. Unless the document is being made available under a Creative Commons Licence, you must assume that re-use is limited to personal use and that permission from the copyright owner must be obtained for all other uses. If the document is available under a Creative Commons License (or other specified license) then refer to the Licence for details of permitted re-use. It is a condition of access that users recognise and abide by the legal requirements associated with these rights. If you believe that this work infringes copyright please provide details by email to qut.copyright@qut.edu.au | ||||||
Deposited On: | 15 May 2024 01:08 | ||||||
Last Modified: | 27 Jun 2024 14:35 |
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