Success Story: Maximizing the Use of Mitochondrial DNA in Identifying Remains and Aiding Missing Persons Casework

Success Story: Maximizing the Use of Mitochondrial DNA in Identifying Remains and Aiding Missing Persons Casework

National Institute of Justice and the American Registry of Pathology


April 2018


Mitochondrial DNA (mtDNA) serves as an important tool in situations where traditional nuclear DNA analysis is unlikely to yield probative information. mtDNA sequencing has traditionally focused on the control region, a small noncoding region of high variability which is used for identification purposes. The utility of the control region in individualization cases is limited because many unrelated individuals share these sequences. Complete sequencing of the mitochondrial genome (mtGenome), which includes coding regions of the molecule, has been shown to more effectively distinguish unrelated individuals. The recent development of massively parallel sequencing (MPS) technologies has enabled complete mtGenome sequencing to be utilized for forensic casework. Although mtGenome sequence data have long been available in resources such as GenBank, they do not properly represent randomly sampled populations and do not meet the stringent data quality standards required for use in the forensic context. Datasets may have errors or lack important parameters for mtDNA analysis. To address the gap in population data, the NIJ funded an award with Principle Investigators Drs. Jodi Irwin, Rebecca Just, and Walther Parson whom developed a forensic-quality mtGenome population database with more than 500 complete mtGenomes spanning three U.S. population groups. This database offers a foundation of forensically robust reference population data, with complete and accurate information which will ultimately improve discrimination between forensic samples with distinct maternal lineages.

"The complete mtGenome reference data developed in this project serve as important milestones for the understanding of coding region heteroplasmy and the acceptance of full mtGenome sequencing in worldwide forensic genetics."

- Dr. Walther Parson | Co-PI and Associate Professor, Institute of Legal Medicine, Innsbruck Medical University

Funding for this Forensic Technology Center of Excellence success story was provided by the National Institute of Justice, Office of Justice Programs, U.S. Department of Justice.

The opinions, findings, and conclusions or recommendations expressed in this success story are those of the author(s) and do not necessarily reflect those of the U.S. Department of Justice.

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