Mitochondrial DNA in forensic use

Abstract

Genetic analysis of mitochondrial DNA (mtDNA) has always been a useful tool for forensic geneticists, mainly because of its ubiquitous presence in biological material, even in the absence of nuclear DNA. Sequencing, however, is not a skill that is part of the routine forensic analysis because of the relative rarity of requests, and the need for retention of necessary skill sets and associated accreditation issues. While standard Sanger sequencing may be relatively simple, many requests are made in the face of compromised biological samples. Newer technologies, provided through massively parallel sequencing (MPS), will increase the opportunity for scientists to include this tool in their routine, particularly for missing person investigations. MPS has also enabled a different approach to sequencing that can increase sensitivity in a more targeted approach. In these circumstances it is likely that only a laboratory that specialises in undertaking forensic mtDNA analysis will be able to take these difficult cases forward, more so because reviews of the literature have revealed significantly high levels of typing errors in publications reporting mtDNA sequences. The forensic community has set out important guidelines, not only in the practical aspects of analysis, but also in the interpretation of that sequence to ensure that accurate comparisons can be made. Analysis of low-level, compromised and ancient DNA is not easy, however, as contamination is extremely difficult to eliminate and circumstances leading to sequencing errors are all too easily introduced. These problems, and solutions, are discussed in the article in relation to several historic cases.

Advancements and Applications of Preimplantation Genetic Testing in In Vitro Fertilization: A Comprehensive Review

“…Through mitochondrial DNA testing, individuals can gain insights into their matrilineal ancestry, facilitating the tracing of maternal lineage across generations. Particularly in genealogy research, this testing proves invaluable in identifying common ancestors and establishing connections among relatives along maternal lines [ 30 ]. In forensic science, mitochondrial DNA testing is critical in human identification.…”

Recent advances in forensic biology and forensic DNA typing: INTERPOL review 2019–2022

“…Mitochondrial DNA (mtDNA), which is maternally inherited with a high copy number per cell, can aid human identification, missing persons investigations, and challenging forensic specimens containing low quantities of nuclear DNA such as hair shafts [ [475] , [476] , [477] ]. Validation studies have been published using traditional Sanger sequencing [ 478 ] and next-generation sequencing [ [479] , [480] , [481] ].…”

The Revolution of Animal Genomics in Forensic Sciences

“…Due to greater resistance to degradation and the presence of numerous copies per cell, mitochondrial DNA can be successfully analyzed in biological samples subjected to physical and chemical degradation from fossil bones or lost hair post-mortem [56,57]. In the human mitogenome, SNP analysis is performed both on coding and non-coding fragments and was proved useful in forensic cases providing additional information to support poor or negative autosomal information (reviewed in [58,59]).…”