Forensic DNA: Mitochondrial DNA

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Description

Mitochondrial DNA (mtDNA) has provided forensic scientists with a valuable tool for determining the source of DNA recovered from damaged, degraded, or very small biological samples. MtDNA is a small circular genome located in the mitochondria, which are located outside of a cell's nucleus. Most human cells contain hundreds of copies of mtDNA genomes, as opposed to two copies of the DNA that is located in the nucleus. This high copy number increases the likelihood of recovering sufficient DNA from compromised DNA samples, and for this reason, mtDNA can play an important role in missing persons investigations, mass disasters, and other forensic investigations involving samples with limited biological material. Additionally, mtDNA is maternally inherited. Therefore, barring a mutation, an individual's mother, siblings, as well as all other maternally-related family members will have identical mtDNA sequences. As a result, forensic comparisons can be made using a reference sample from any maternal relative, even if the unknown and reference sample are separated by many generations.

NIJ has supported research to develop tools to rapidly screen biological evidence to obtain mtDNA information, as well as tools for separating the individual components of mtDNA mixtures and to improve the resolving power of mtDNA information. In addition, a NIST (National Institute of Standards and Technology) standard reference material (SRM 2392-I) has been characterized to aid in certification of mtDNA sequencing procedures

Research Projects

The table below presents awards funded both prior to and under the DNA Initiative, which began in 2004.

TitleAwardeeAmountAward Number
Maximizing mtDNA Testing Potential with the Generation of High-Quality Genome Reference DataAmerican Registry of Pathology2011-MU-MU-K402$1,860,808
Assessing Deep Sequencing Technology for Human Forensic mitochondrial DNAWestern Carolina University2010-DN-BX-K171$397,098
Development of Linkage Phase Analysis Software for Resolving mtDNA MixturesUniversity of Denver – Colorado Seminary2009-DN-BX-K047$42,646
Mitochondrial DNA Mixture Separation Development and Validation by Denaturing High-Performance Liquid ChromatographyUniversity of Denver2006-DN-BX-K002$20,000
Development of Multiplex PCR and Linear Array Probe Assay Targeting Informative Polymorphisms Within the Entire Mitochondrial GenomeChildren's Hospital, Oakland Research Institute2005-MU-BX-K074$469,123
Enhancing the Size, Sampling, and Quality of Forensic mtDNA DatabasesArmed Forces Institute of Pathology2005-DN-R-086$1,891,390
Global mtDNA Databasing ProjectArmed Forces Institute of Pathology2005-DN-R-086$2,204,863
Mitochondrial DNA Analysis by Denaturing Liquid Chromatography for the Separation of Mixtures in Forensic SamplesUniversity of Denver-Colorado Seminary2003-IJ-CX-K104$202,513
Mitochondrial DNA Mixture Separation and Analysis by Denaturing High-Performance ChromatographyUniversity of Denver2003-IJ-CX-K104$254,549
Mitochondrial DNA Genome Sequencing and SNP Assay DevelopmentAmerican Registry of Pathology2000-IJ-CX-K010$219,470
Mitochondrial DNA Genome Sequencing and SNP Assay DevelopmentAmerican Registry of Pathology2000-IJ-CX-K010$465,082
Mitochondrial DNA Genome Sequencing and SNP Assay DevelopmentAmerican Registry of Pathology2000-IJ-CX-K010$579,488
Forensic Typing of Mitochondrial DNA Using Peptide Nucleic Acid ProbesAmerican University1997-LB-VX-0005$49,965
Development of Rapid, Immobilized Probe Assay for the Detection of mtDNA VariationChildren's Hospital-Oakland Research Institute1996-IJ-CX-0028$160,247
Development of Rapid, Immobilized Probe Assay for the Detection of mtDNA VariationChildren's Hospital-Oakland Research Institute1996-IJ-CX-0028$193,318
Development of Rapid, Immobilized Probe Assay for the Detection of mtDNA VariationChildren's Hospital-Oakland Research Institute1996-IJ-CX-0028$259,080
Development of Rapid, Immobilized Probe Assay for the Detection of mtDNA VariationChildren's Hospital-Oakland Research Institute1996-IJ-CX-0028$355,589
Develop a Rapid, Immobilized Probe Assay for Detection of mtDNA Sequence VariationRoche Molecular System, Inc.1995-IJ-CX-0014$94,458
Mitochondrial DNA Variation in North American Populations of Four Ethnic GroupsPennsylvania State University1992-IJ-CX-K040$116,453
Mitochondrial DNA Variation in North American Populations of Four Ethnic GroupsPennsylvania State University1992-IJ-CX-K040$159,159

Research Articles and Reports

Select a title to view an abstract from PubMed database (National Library of Medicine's) unless a different file type is indicated.

TitleAuthorsPublicationYearAwardeeAward Number
Mitochondrial DNA Analysis by Denaturing Liquid Chromatography for the Separation of Mixtures in Forensic Samples (pdf, 107 pages)Phillip B. DanielsonFinal Grant Report2009University of Denver2003-IJ-CX-K104
Identification of West Eurasian mitochondrial haplogroups by mtDNA SNP screening: Results of the 2006–2007 EDNAP collaborative exerciseWalther Parson, Liane Fendt, David Ballard, Claus Børsting, Bernd Brinkmann, Ángel Carracedo, Mónica Carvalho, Michael D. Coble, Francisco Corte Real, Stijn Desmyter, Berit M. Dupuy, Cheryl Harrison, Carsten Hohoff, Rebecca Just, Tanja Krämer, Niels Morling, Antonio Salas, Hermann Schmitter, Peter M. Schneider, Marie-Luise Sonntag, Peter M. Vallone, Anita Brandstätter Forensic Science International: Genetics
January 2008 (Vol. 2, Issue 1, Pages 61-68)
2008Armed Forces DNA Identification Laboratory2005-DN-R-086
Development and expansion of high-quality control region databases to improve forensic mtDNA evidence interpretationJodi A. Irwin, Jessica L. Saunier, Katharine M. Strouss, Kimberly A. Sturk, Toni M. Diegoli, Rebecca S. Just, Michael D. Coble, Walther Parson, Thomas J. Parsons Forensic Science International: Genetics
June 2007 (Vol. 1, Issue 2, Pages 154-157)
2007Armed Forces DNA Identification Laboratory2005-DN-R-086
Resolving mtDNA mixtures by denaturing high-performance liquid chromatography and linkage phase determinationPhillip B. Danielson, Hong-Yu Sun, Terry Melton, Richard KristinssonForensic Science International: Genetics
June 2007 (Vol. 1, Issue 2, Pages 148-153)
2007University of Denver2003-IJ-CX-K104
Mitochondrial DNA amplification success rate as a function of hair morphology.Roberts KA, Calloway C. JForensic Sci. 2007 Jan; 52(1):40-7.2007Children's Hospital, Oakland Research Institute1996-IJ-CX-0028
Effective strategies for forensic analysis in the mitochondrial DNA coding region.Coble MD, Vallone PM, Just RS, Diegoli TM, Smith BC, Parsons TJ.Int J Legal Med. 2006 Jan; 120(1):27-32.2006American Registry of Pathology2000-IJ-CX-K010
Characterization of mtDNA SNP typing and mixture ratio assessment with simultaneous real-time PCR quantification of both allelic statesHarald Niederstätter, Michael D. Coble, Petra Grubwieser, Thomas J. Parsons and Walther ParsonInt J Legal Med. 2006 Jan; 120(1):18-23.2006American Registry of Pathology2000-IJ-CX-K010
Mitochondrial DNA Genome Sequencing and SNP Assay Development for Increased Power of Discrimination (pdf, 119 pages)Thomas J. ParsonsFinal Grant Report2006American Registry of Pathology2000-IJ-CX-K010
Development of a Rapid, Immobilized Probe Assay for the Detection of Mitochondrial DNA Variation in the HVI and HVII Regions (pdf, 50 pages)Cassandra D. Calloway, MS and Henry Erlich, PhDFinal Grant Report2005Children's Hospital, Oakland Research Institute1996-IJ-CX-0028
Forensic casework analysis using the HVI/ HVII mtDNA linear array assayDivne A., Nilsson M., Calloway C., Reynolds R., Erlich H., Allen M.J Forensic Sci. 2005 May; 50(3):548-5542005Children's Hospital, Oakland Research Institute1996-IJ-CX-0028
Mitochondrial DNA typing screens with control region and coding region SNPs.Kline, M.C., Vallone, P.M., Redman, J.W., Duewer, D.L., Calloway, C.D., Butler, J.M.J Forensic Sci. 2005 Mar; 50(2):377-852005National Institute of Standards and Technology2003-IJ-R-029
Separating human DNA mixtures using denaturing high-performance liquid chromatography.Danielson PB, Kristinsson R, Shelton RJ, Laberge GSExpert Rev Mol Diagn. 2005 Jan; 5(1):53-632005University of Denver-Colorado Seminary2003-IJ-CX-K104
Optimization of a duplex amplification and sequencing strategy for the HVI/HVII regions of human mitochondrial DNA for forensic caseworkChong MD, Calloway CD, Klein SB, Orrego C, Buoncristiani MR.Forensic Sci Int. 2005 Nov 25; 154(2-3):137-48.2005Children's Hospital, Oakland Research Institute1996-IJ-CX-0028
A multiplex allele-specific primer extension assay for forensically informative SNPs distributed throughout the mitochondrial genome.Vallone PM, Just RS, Coble MD, Butler JM, Parsons TJ.Int J Legal Med. 2004 Jun; 118(3):147-57. Epub 2004 Feb 04.2004American Registry of Pathology2000-IJ-CX-K010
Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians.Coble MD, Just RS, O'Callaghan JE, Letmanyi IH, Peterson CT, Irwin JA, Parsons TJ.Int J Legal Med. 2004 Jun; 118(3):137-46.2004American Registry of Pathology2000-IJ-CX-K010
Toward increased utility of mtDNA in forensic identifications.Just RS, Irwin JA, O'Callaghan JE, Saunier JL, Coble MD, Vallone PM, Butler JM, Barritt SM, Parsons TJ.Forensic Sci Int. 2004 Dec 2; 146 Suppl:S147-9.2004American Registry of Pathology2000-IJ-CX-K010
Comparison of the complete mtDNA genome sequences of human cell lines – HL-60 and GM10742A – from individuals with pro-myelocytic leukemia and leber hereditary optic neuropathy, respectively, and the inclusion of HL-60 in the NIST human mitochondrial DNA standard reference material – SRM 2392-ILevin BC, Holland KA, Hancock DK, Coble M, Parsons TJ, Kienker LJ, Williams DW, Jones M, Richie KLMitochondrion, January 01, 20032003National Institute of Standards and Technology1999-IJ-R-A094
Identification of human remains by immobilized sequence-specific oligonucleotide probe analysis of mtDNA hypervariable regions I and II.Gabriel MN, Calloway CD, Reynolds RL, Primorac D.Croat Med J. 2003 Jun; 44(3):293-8.2003Children's Hospital, Oakland Research Institute1996-IJ-CX-0028
Increasing the forensic discrimination of mitochondrial DNA testing through analysis of the entire mitochondrial DNA genome.Parsons TJ, Coble MD.Croat Med J. 2001 Jun;42(3):304-9.2001American Registry of Pathology2000-IJ-CX-K010
Diversity and heterogeneity in mitochondrial DNA of North American populations.Melton T, Clifford S, Kayser M, Nasidze I, Batzer M, Stoneking M.J Forensic Sci. 2001 Jan; 46(1):46-52.2001Pennsylvania State University1992-IJ-CX-K040
Population variation of human mitochondrial DNA hypervariable regions I and II in 105 Croatian individuals demonstrated by immobilized sequence-specific oligonucleotide probe analysis.Gabriel MN, Calloway CD, Reynolds RL, Andelinovic S, Primorac D.Croat Med J. 2001 Jun; 42(3):328-35.2001Children's Hospital, Oakland Research Institute1996-IJ-CX-0028
The frequency of heteroplasmy in the HVII region of mtDNA differs across tissue types and increases with age.Calloway CD, Reynolds RL, Herrin GL Jr, Anderson WW.Am J Hum Genet. 2000 Apr; 66(4):1384-97. Epub 2000 Mar 17.2000Children's Hospital, Oakland Research Institute1996-IJ-CX-0028
Date Modified: October 11, 2012