Mitochondrial DNA Analysis in Population Isolates: Challenges and Implications for Human Identification

Abstract Purpose of Review Mitochondrial DNA (mtDNA) plays an essential role in forensic science, aiding in human identification especially when dealing with degraded DNA samples or cases devoid of paternal family reference samples. Yet, the nuances of isolated populations, shaped by a small number of founders that separate from general populations due to factors such as cultural or geographic differences, and as such, often exhibit very different allele frequencies, pose challenges to its applicability. Recent Findings Recent investigations have determined that ignoring the presence of genetic isolates when performing forensic genetic analysis can introduce significant bias into the results ultimately leading to incorrect match probability estimates, increased false positives or false negatives, miscalculation of familial relationships, ethical and legal concerns, loss of public trust, and mistaken convictions or acquittals. Summary This paper offers a comprehensive review of the challenges and implications for human identification using mtDNA in isolated populations, focusing on population history and social factors; homogeneity of mtDNA; lack of representation in reference databases; and data interpretation and appropriate statistical methods.