Mitochondrial DNA (mtDNA) Information

Team Members: John M. Butler (Project Leader), Margaret C. Kline, Peter M. Vallone, Michael D. Coble (at AFDIL since 17 Apr 2006), Janette W. Redman, Amy E. DeckerCarolyn R. "Becky" Hill, David L. Duewer (Analytical Chemistry Division)

$Funding from the National Institute of Justice through the NIST Office of Law Enforcement Standards


Recent presentations regarding mtDNA:

John Butler presentation for New Jersey State Police DNA Laboratory Training Workshop (Hamilton, NJ), December 5-6, 2006 [.pdf]

Mike Coble presentations at Y-Chromosome and Mitochondrial DNA Workshop for the Northeastern Association of Forensic Scientists (NEAFS) (Rye Brook, NY), November 1, 2006 [Section 1] [Section 2] [Section 3] [Section 4]

Mike Coble presentation at the National Forensic Science Technology Center Mitochondrial DNA Workshop (Largo, FL), March 13, 2006, "Introduction to Mitochondrial DNA Analysis" [.pdf]

Mike Coble presentation at the National Forensic Science Technology Center Mitochondrial DNA Workshop (Largo, FL), March 14, 2006, "mtDNA Coding Region and Haplogroups" [.pdf]

Mike Coble poster at 58th Annual Meeting of the American Academy of Forensic Sciences (Seattle, WA), February 24, 2006, "An Evaluation of Mitochondrial DNA Variation: From Linear Arrays to Whole Genome Sequencing" [.pdf]

Mike Coble talk at NIH Mitochondrial Molecular Biology and Pathology Workshop (Bethesda, MD), April 29, 2005, "Forensic Application of Sequence Variation in the Human mtDNA Genome" [.pdf]

Mike Coble talk at the Taipei Symposium on the Application of mtDNA Technology in Forensic Science held at the Central Police University (Taipei, Taiwan), November 18, 2004 [.pdf]

John Butler talk at American Academy of Forensic Sciences workshop on Forensic Human Mitochondrial DNA Analysis (Dallas, TX), February 16, 2004, "SNPs and Strips: Approaches to Rapid Screening of mtDNA Types" [.pdf]


Recent publications regarding mtDNA:

Vallone, P.M., Just, R.S., Coble, M.D., Butler, J.M., Parsons, T.J. (2004) A multiplex allele-specific primer extension assay for forensically informative SNPs distributed throughout the mitochondrial genome. Int. J. Legal Med., 118: 147-157. [Protocol for 11plex SNP assay developed at NIST]  [Genotyper macro for mtSNP 11plex]

Coble, M.D., Just, R.S., O'Callaghan, J.E., Letmanyi, I.H., Peterson, C.T., Irwin, J.A., Parsons, T.J. (2004) Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians. Int. J. Legal Med., 118: 137-146.

Coble, M.D. (2004) The identification of single nucleotide polymorphisms in the entire mitochondrial genome to increase the forensic discrimination of common HV1/HV2 types in the Caucasian population. PhD dissertation, George Washington University, 206 pp. 

Just, R.S., Irwin, J.A., O'Callaghan, J.E., Saunier, J.L., Coble, M.D., Vallone, P.M., Butler, J.M., Barritt, S.M., Parsons, T.J. (2004) Toward increased utility of mtDNA in forensic identifications. Forensic Sci. Int. 146S: S147-S149.

Kline, M.C., Vallone, P.M., Redman, J.W., Duewer, D.L., Calloway, C.D., Butler, J.M. (2005) Mitochondrial DNA typing screens with control region and coding region SNPs. J. Forensic Sci. 50: 377-385.

Niederstรคtter, H., Coble, M.D., Grubwieser, P., Parsons, T.J., Parson, W. (2006) Characterization of mtDNA SNP typing and mixture ratio assessment with simultaneous real-time PCR quantification of both allelic states. Int. J. Legal Med. 120:18-23.

Coble, M.D., Vallone, P.M., Just, R.S., Diegoli, T.M., Smith, B.C., Parsons, T.J. (2006) Effective strategies for forensic analysis in the mitochondrial DNA coding region. Int. J. Legal. Med. 120:27-32. [Supplementary Data].


LINKS (to other useful mtDNA sites):

Armed Forces DNA Identification Laboratory (AFDIL):

EMPOP Mitochondrial DNA Control Region Database:

FBI Laboratory DNA Unit II:

Human Mitochondrial Protein Database:

Mitochondria Research Society:

Mitochondrion (Journal of the Mitochondria Research Society):

Mitomap - A Human Mitochondrial Genome Database:

Mitotyping Technologies: 

mtDB - Human Mitochondrial Genome Database:

mtDNA Manager:

mtSNP Database Search:

SWGDAM mtDNA Database:

SWGDAM Guidelines for mtDNA Interpretation:; for updated version, see



Last Updated: 03/07/2013