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PeerJ. 2019 Aug 13;7:e7314. doi: 10.7717/peerj.7314. eCollection 2019.

Mitochondrial DNA in human identification: a review.

Author information

Instituto Nacional de Medicina Legal e Ciências Forenses, Lisboa, Portugal.
Faculdade de Ciências da Universidade de Lisboa, Lisboa, Portugal.
Escola de Ciências e Tecnologias, Universidade de Évora, Évora, Portugal.
Research Center for Anthropology and Health (CIAS), Universidade de Coimbra, Coimbra, Portugal.
Instituto Universitário Egas Moniz (IUEM), Almada, Portugal.
Research Institute for Medicines (iMed.ULisboa), Faculty of Pharmacy, Universidade de Lisboa, Lisbon, Portugal.


Mitochondrial DNA (mtDNA) presents several characteristics useful for forensic studies, especially related to the lack of recombination, to a high copy number, and to matrilineal inheritance. mtDNA typing based on sequences of the control region or full genomic sequences analysis is used to analyze a variety of forensic samples such as old bones, teeth and hair, as well as other biological samples where the DNA content is low. Evaluation and reporting of the results requires careful consideration of biological issues as well as other issues such as nomenclature and reference population databases. In this work we review mitochondrial DNA profiling methods used for human identification and present their use in the main cases of humanidentification focusing on the most relevant issues for forensics.


Forensic biology; Human identification; Legal medicine; mtDNA

Conflict of interest statement

The authors declare there are no competing interests.

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