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

Mitochondrial DNA in human identification: a review

António Amorim  1   2 , Teresa Fernandes  3   4 , Nuno Taveira  5   6
Affiliations

Mitochondrial DNA in human identification: a review

António Amorim et al. PeerJ. .

Abstract

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.

Keywords: Forensic biology; Human identification; Legal medicine; mtDNA.

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Conflict of interest statement

The authors declare there are no competing interests.

Figures

Figure 1
Figure 1. The human mitochondrial DNA genome with genes and control regions labeled.
Adapted from Picard, Wallace & Burelle (2016).
Figure 2
Figure 2. Representation of the geographical origin of the main mtDNA haplogroups, based on Lott et al. (2014).
See this image and copyright information in PMC

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