Forensic DNA: Mitochondrial DNA
On this page find:
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.
| Title | Awardee | Amount | Award Number |
|---|---|---|---|
| Maximizing mtDNA Testing Potential with the Generation of High-Quality Genome Reference Data | American Registry of Pathology | 2011-MU-MU-K402 | $1,860,808 |
| Assessing Deep Sequencing Technology for Human Forensic mitochondrial DNA | Western Carolina University | 2010-DN-BX-K171 | $397,098 |
| Development of Linkage Phase Analysis Software for Resolving mtDNA Mixtures | University of Denver – Colorado Seminary | 2009-DN-BX-K047 | $42,646 |
| Mitochondrial DNA Mixture Separation Development and Validation by Denaturing High-Performance Liquid Chromatography | University of Denver | 2006-DN-BX-K002 | $20,000 |
| Development of Multiplex PCR and Linear Array Probe Assay Targeting Informative Polymorphisms Within the Entire Mitochondrial Genome | Children's Hospital, Oakland Research Institute | 2005-MU-BX-K074 | $469,123 |
| Enhancing the Size, Sampling, and Quality of Forensic mtDNA Databases | Armed Forces Institute of Pathology | 2005-DN-R-086 | $1,891,390 |
| Global mtDNA Databasing Project | Armed Forces Institute of Pathology | 2005-DN-R-086 | $2,204,863 |
| Mitochondrial DNA Analysis by Denaturing Liquid Chromatography for the Separation of Mixtures in Forensic Samples | University of Denver-Colorado Seminary | 2003-IJ-CX-K104 | $202,513 |
| Mitochondrial DNA Mixture Separation and Analysis by Denaturing High-Performance Chromatography | University of Denver | 2003-IJ-CX-K104 | $254,549 |
| Mitochondrial DNA Genome Sequencing and SNP Assay Development | American Registry of Pathology | 2000-IJ-CX-K010 | $219,470 |
| Mitochondrial DNA Genome Sequencing and SNP Assay Development | American Registry of Pathology | 2000-IJ-CX-K010 | $465,082 |
| Mitochondrial DNA Genome Sequencing and SNP Assay Development | American Registry of Pathology | 2000-IJ-CX-K010 | $579,488 |
| Forensic Typing of Mitochondrial DNA Using Peptide Nucleic Acid Probes | American University | 1997-LB-VX-0005 | $49,965 |
| Development of Rapid, Immobilized Probe Assay for the Detection of mtDNA Variation | Children's Hospital-Oakland Research Institute | 1996-IJ-CX-0028 | $160,247 |
| Development of Rapid, Immobilized Probe Assay for the Detection of mtDNA Variation | Children's Hospital-Oakland Research Institute | 1996-IJ-CX-0028 | $193,318 |
| Development of Rapid, Immobilized Probe Assay for the Detection of mtDNA Variation | Children's Hospital-Oakland Research Institute | 1996-IJ-CX-0028 | $259,080 |
| Development of Rapid, Immobilized Probe Assay for the Detection of mtDNA Variation | Children's Hospital-Oakland Research Institute | 1996-IJ-CX-0028 | $355,589 |
| Develop a Rapid, Immobilized Probe Assay for Detection of mtDNA Sequence Variation | Roche Molecular System, Inc. | 1995-IJ-CX-0014 | $94,458 |
| Mitochondrial DNA Variation in North American Populations of Four Ethnic Groups | Pennsylvania State University | 1992-IJ-CX-K040 | $116,453 |
| Mitochondrial DNA Variation in North American Populations of Four Ethnic Groups | Pennsylvania State University | 1992-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.
| Title | Authors | Publication | Year | Awardee | Award Number |
|---|---|---|---|---|---|
| Mitochondrial DNA Analysis by Denaturing Liquid Chromatography for the Separation of Mixtures in Forensic Samples (pdf, 107 pages) | Phillip B. Danielson | Final Grant Report | 2009 | University of Denver | 2003-IJ-CX-K104 |
| Identification of West Eurasian mitochondrial haplogroups by mtDNA SNP screening: Results of the 2006–2007 EDNAP collaborative exercise | Walther 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) |
2008 | Armed Forces DNA Identification Laboratory | 2005-DN-R-086 |
| Development and expansion of high-quality control region databases to improve forensic mtDNA evidence interpretation | Jodi 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) |
2007 | Armed Forces DNA Identification Laboratory | 2005-DN-R-086 |
| Resolving mtDNA mixtures by denaturing high-performance liquid chromatography and linkage phase determination | Phillip B. Danielson, Hong-Yu Sun, Terry Melton, Richard Kristinsson | Forensic Science International: Genetics June 2007 (Vol. 1, Issue 2, Pages 148-153) |
2007 | University of Denver | 2003-IJ-CX-K104 |
| Mitochondrial DNA amplification success rate as a function of hair morphology. | Roberts KA, Calloway C. J | Forensic Sci. 2007 Jan; 52(1):40-7. | 2007 | Children's Hospital, Oakland Research Institute | 1996-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. | 2006 | American Registry of Pathology | 2000-IJ-CX-K010 |
| Characterization of mtDNA SNP typing and mixture ratio assessment with simultaneous real-time PCR quantification of both allelic states | Harald Niederstätter, Michael D. Coble, Petra Grubwieser, Thomas J. Parsons and Walther Parson | Int J Legal Med. 2006 Jan; 120(1):18-23. | 2006 | American Registry of Pathology | 2000-IJ-CX-K010 |
| Mitochondrial DNA Genome Sequencing and SNP Assay Development for Increased Power of Discrimination (pdf, 119 pages) | Thomas J. Parsons | Final Grant Report | 2006 | American Registry of Pathology | 2000-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, PhD | Final Grant Report | 2005 | Children's Hospital, Oakland Research Institute | 1996-IJ-CX-0028 |
| Forensic casework analysis using the HVI/ HVII mtDNA linear array assay | Divne A., Nilsson M., Calloway C., Reynolds R., Erlich H., Allen M. | J Forensic Sci. 2005 May; 50(3):548-554 | 2005 | Children's Hospital, Oakland Research Institute | 1996-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):377-85 | 2005 | National Institute of Standards and Technology | 2003-IJ-R-029 |
| Separating human DNA mixtures using denaturing high-performance liquid chromatography. | Danielson PB, Kristinsson R, Shelton RJ, Laberge GS | Expert Rev Mol Diagn. 2005 Jan; 5(1):53-63 | 2005 | University of Denver-Colorado Seminary | 2003-IJ-CX-K104 |
| Optimization of a duplex amplification and sequencing strategy for the HVI/HVII regions of human mitochondrial DNA for forensic casework | Chong MD, Calloway CD, Klein SB, Orrego C, Buoncristiani MR. | Forensic Sci Int. 2005 Nov 25; 154(2-3):137-48. | 2005 | Children's Hospital, Oakland Research Institute | 1996-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. | 2004 | American Registry of Pathology | 2000-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. | 2004 | American Registry of Pathology | 2000-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. | 2004 | American Registry of Pathology | 2000-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-I | Levin BC, Holland KA, Hancock DK, Coble M, Parsons TJ, Kienker LJ, Williams DW, Jones M, Richie KL | Mitochondrion, January 01, 2003 | 2003 | National Institute of Standards and Technology | 1999-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. | 2003 | Children's Hospital, Oakland Research Institute | 1996-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. | 2001 | American Registry of Pathology | 2000-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. | 2001 | Pennsylvania State University | 1992-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. | 2001 | Children's Hospital, Oakland Research Institute | 1996-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. | 2000 | Children's Hospital, Oakland Research Institute | 1996-IJ-CX-0028 |
Date Modified: October 11, 2012
