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
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
Current projects
Mitochondrial DNA Mixture Separation Development and Validation by Denaturing High Performance Liquid Chromatography
University of Denver (Graduate Research Fellowship award)
Award Number: 2006-DN-BX-K002
Development of Multiplex PCR and Linear Array Probe Assay Targeting Informative Polymorphisms within the Entire Mitochondrial Genome
Children's Hospital of Oakland Research Institute
Award Number: 2005-MU-BX-K074
Enhancing the Size, Sampling, and Quality of Forensic Mitochondrial DNA Databases.
Armed Forces Institute of Pathology
Award Number: 2005-DN-R-086
Mitochondrial DNA Mixture Separation and Analysis by Denaturing High-Performance Liquid Chromatography
University of Denver
Award Number: 2003-IJ-CX-K104
Research, Development and Evaluation Studies by the NIST Human Project Team
Mitochondrial DNA: Coding Region SNP Assay Development
National Institute of Standards and Technology
Award Numbers: 1999-IJ-R-A094 and 2003-IJ-R-029
Mitochondrial DNA LINEAR ARRAY Evaluation
National Institute of Standards and Technology
Award Numbers: 1999-IJ-R-A094 and 2003-IJ-R-029
Improvement of the NIST Human Mitochondrial DNA Sequencing Standard Reference Material 2392
National Institute of Standards and Technology
Award Number: 1999-IJ-R-A094
National Institute of Standards and Technology
Award Numbers: 1999-IJ-R-A094 and 2003-IJ-R-029
Mitochondrial DNA LINEAR ARRAY Evaluation
National Institute of Standards and Technology
Award Numbers: 1999-IJ-R-A094 and 2003-IJ-R-029
Improvement of the NIST Human Mitochondrial DNA Sequencing Standard Reference Material 2392
National Institute of Standards and Technology
Award Number: 1999-IJ-R-A094
Recently Closed
Development of Rapid, Immobilized Probe Assay for the Detection of mtDNA Variation
Children's Hospital of Oakland Research Institute
Award Number: 1996-IJ-CX-0028
Final Report (pdf)
Homogeneous Fluorescent PCR Assays for Forensically Informative Sites Over the Entire mtDNA Genome
American Registry of Pathology
Award Number: 2000-IJ-CX-K010
Final Report (pdf)
Mitochondrial DNA amplification success rate as a function of hair morphology.
Roberts KA, Calloway C. J Forensic Sci. 2007 Jan;52(1):40-7.
View Pub Med Entry
Grant number: 1996-IJ-CX-0028
Characterization of mtDNA SNP typing and mixture ratio assessment with simultaneous real-time PCR quantification of both allelic states
Roberts KA, Calloway C. J Forensic Sci. 2007 Jan;52(1):40-7.
View Pub Med Entry
Grant number: 1996-IJ-CX-0028
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.
Pub Med
View Pub Med Entry
Grant number: 2000-IJ-CX-K010
Int J Legal Med. 2006 Jan;120(1):18-23.
Pub Med
View Pub Med Entry
Grant number: 2000-IJ-CX-K010
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.
View Pub Med Entry
Grant number: 2000-IJ-CX-K010
Coble MD, Vallone PM, Just RS, Diegoli TM, Smith BC, Parsons TJ.
Int J Legal Med. 2006 Jan;120(1):27-32.
View Pub Med Entry
Grant number: 2000-IJ-CX-K010
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.
Pub Med
View Pub Med Entry
Grant number: 1996-IJ-CX-0028
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
Chong MD, Calloway CD, Klein SB, Orrego C, Buoncristiani MR.
Forensic Sci Int. 2005 Nov 25;154(2-3):137-48.
Pub Med
View Pub Med Entry
Grant number: 1996-IJ-CX-0028
Danielson PB, Kristinsson R, Shelton RJ, Laberge GS
Expert Rev Mol Diagn. 2005 Jan;5(1):53-63
View Pub Med Entry
Grant number: 2003-IJ-CX-K104
Grant number: 2003-IJ-CX-K104
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
Grant number: 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
Grant number: 2003-IJ-R-029
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.
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.
Grant number: 2000-IJ-CX-K010
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.
Vallone PM, Just RS, Coble MD, Butler JM, Parsons TJ.
Int J Legal Med. 2004 Jun;118(3):147-57. Epub 2004 Feb 04.
Grant number: 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.
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.
Grant number: 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
Grant number: 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.
Gabriel MN, Calloway CD, Reynolds RL, Primorac D.
Croat Med J. 2003 Jun;44(3):293-8.
Grant number: 1996-IJ-CX-0028
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.
Gabriel MN, Calloway CD, Reynolds RL, Andelinovic S, Primorac D.
Croat Med J. 2001 Jun;42(3):328-35.
Grant number: 1996-IJ-CX-0028
Increasing the forensic discrimination of mitochondrial DNA testing through analysis of the entire mitochondrial DNA genome.
Parsons TJ, Coble MD.
Parsons TJ, Coble MD.
Croat Med J. 2001 Jun;42(3):304-9.
Grant number: 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.
Melton T, Clifford S, Kayser M, Nasidze I, Batzer M, Stoneking M.
J Forensic Sci. 2001 Jan;46(1):46-52.
Grant number: 1992-IJ-CX-K040
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.
Calloway CD, Reynolds RL, Herrin GL Jr, Anderson WW.
Am J Hum Genet. 2000 Apr;66(4):1384-97. Epub 2000 Mar 17.
Grant number: 1996-IJ-CX-0028
