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

    February 2024 in “ Forensic Sciences Research
    Hui Li, Yu Cao, Fan Yang, Xiling Liu, Ruiyang Tao, Ruocheng Xia, Ruxin Zhu, Lei Jiang, Shiquan Liu, Chengtao Li
    Studysummary In this study, researchers found that massively parallel sequencing of mitochondrial DNA (mtDNA) can improve information recovery from forensic samples, with successful full region amplification possible from as few as 2,000 mtDNA copies, albeit with variability in heteroplasmy among hair samples from the same donor.
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    The study investigates the use of mitochondrial DNA (mtDNA) from fingernail and hair shaft samples for forensic analysis, demonstrating the effectiveness of massively parallel sequencing (MPS) in recovering genetic information from degraded samples. Conducted with 44 samples from 4 donors, the research shows that as few as 2,000 mtDNA copies are sufficient for successful sequencing, with quantification possible down to 10 copies. The study highlights the variability of mtDNA within and among samples from the same individual, which can impact forensic investigations. The findings suggest that fingernails and hair shafts can provide valuable genetic information, enhancing forensic methodologies, especially when nuclear DNA is unavailable.
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