ABSTRACT
Numerous features of the human mitochondrial DNA (mtDNA) genome have been studied in great detail, such as structure, function, copy number, mutation rate, and inheritance patterns. ese studies have revealed that mtDNA is a circular genome of approximately 16,569 nucleotides in length. A well-dened, noncoding portion of the genome tolerates the accumulation of mutations, which can be queried to develop a forensic mtDNA sequence prole. e prole information will oen be helpful when identifying missing individuals and solving crime. For example, a comparison of mtDNA proles frequently allows biological evidence to be associated with one specic individual in a forensic case, while excluding unrelated individuals in the same case as a source of DNA recovered from the crime scene. Unfortunately, the maternal inheritance pattern of the mitochondrial genome reduces the overall discrimination potential of the mtDNA testing system, as relatives from the same maternal lineage typically have identical proles. However, the higher mutation rate of the genome can result in the occurrence of heterogeneous pools of mtDNA pro-les that can signicantly increase the power of discrimination and can be transmitted in diering ratios across maternal lines. e material presented in this chapter provides an overview of the forensically relevant characteristics of the mtDNA genome, and how these characteristics can be used to answer questions raised in forensic investigations.
