Application of Mitochondrial DNA as a Tool in the Forensic Field: Update and New Perspectives in mtDNA Analysis

Abstract

The analysis of mitochondrial DNA (mtDNA) is a useful tool in the forensic field as a complementary technique to forensic nuclear DNA thanks to the high sensitivity it provides in those cases in which the integrity or quantity of DNA recovered compromises the study of other forensic genetic markers. Nowadays, mtDNA analysis has been accepted by the majority of courts around the world. However, mtDNA analysis is a type of analysis less used in forensic laboratories than nuclear DNA analysis for several reasons: greater interpretative difficulty, the absence of commercial kits, lower power of discrimination, and increased analytical complexity. This chapter provides an overview of mtDNA analysis, its characteristics, nomenclature, and a methodological overview of how it is typically analyzed in forensic genetics laboratories. In this sense, with the new technologies of massively parallel sequencing (MPS), the platforms used in the forensic field are introduced, as well as the bioinformatics tools for sequences analysis/edition. In addition, a special reference is made to the data interpretation, a key point in forensic laboratories for the statistical evaluation of a match. All the international recommendations existing so far are reviewed.