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Updated: May 6, 2026

Methodology for Accurate Detection of Mitochondrial DNA Methylation
Published on: May 20, 2018
Forensic use of human mitochondrial DNA: A review
Pablo Cavalcanti1,2, Tatiana Lúcia S Nogueira3, Elizeu F DE Carvalho1,2
1State University of Rio de Janeiro (UERJ), DNA Diagnostic Laboratory (LDD), São Francisco Xavier St., 524, Maracanã, 20550-013 Rio de Janeiro, RJ, Brazil.
Abstract:
In forensics, genetic human identification is generally achieved by nuclear STR DNA typing. However, forensic samples often yield DNA in exiguous quantity and low quality, impairing the generation of conclusive DNA profiles by STR typing. In such cases, mitochondrial DNA (mtDNA) can be used as an alternative solution in forensic human identification. The high copy number, small circular DNA, high mutation rate, maternal inheritance, and absence of recombination are mtDNA's key features in forensics. In this work, we review mtDNA characteristics, forensic applications, sequencing methodologies and present some relevant examples in the forensic science literature.

