Forensic Aspects of mtDNA Analysis

Numerous features of the human mitochondrial genome (mtGenome) have been studied in great detail, such as structure, function, copy number, mutation rate, and inheritance patterns. An mtDNA sequence profile can be used to assess ancestral origin, help identify human remains, or link evidential material in criminal casework. The maternal inheritance pattern of the mtGenome reduces the overall discrimination potential, as relatives from a maternal lineage typically share the same profile. Fortunately, the higher mutation rate of the mtGenome results in the frequent occurrence of heterogeneous pools of mtDNA sequence (heteroplasmy) that can increase the power of discrimination and can be used to differentiate material relatives. This chapter provides an overview of the forensically relevant characteristics of the mtGenome, how an mtDNA sequence profile (mitohaplotype) is generated and interpreted, including the emergence of massively parallel sequencing (MPS), and how mtDNA sequence analysis can be used to answer questions raised in forensic investigations.