Quantitation of Human Mitochondrial DNA and Whole Mitochondrial Genomes Sequencing of Fingernail and Hair Shaft Samples

This study explores the use of mitochondrial DNA (mtDNA) analysis in forensic science, particularly for fingernail and hair shaft samples. By employing massively parallel sequencing techniques, the research aims to enhance the recovery and discrimination potential of mtDNA from challenging forensic specimens. The study developed mtDNA-specific standard curves using real-time PCR, allowing for the quantification of as few as 10 copies of mtDNA with a dynamic range spanning eight orders of magnitude. Whole mtGenome sequencing showed that successful amplification and sequencing could be achieved with just 2,000 mtDNA copies. Additionally, the study found variability in point heteroplasmy among hairs from the same donor, which could affect forensic interpretations.