International Journal of Legal Medicine

, Volume 118, Issue 3, pp 137–146 | Cite as

Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians

  • Michael D. Coble
  • Rebecca S. Just
  • Jennifer E. O’Callaghan
  • Ilona H. Letmanyi
  • Christine T. Peterson
  • Jodi A. Irwin
  • Thomas J. Parsons
Original Article


We have sequenced the entire mtDNA genome (mtGenome) of 241 individuals who match 1 of 18 common European Caucasian HV1/HV2 types, to identify sites that permit additional forensic discrimination. We found that over the entire mtGenome even individuals with the same HV1/HV2 type rarely match. Restricting attention to sites that are neutral with respect to phenotypic expression, we have selected eight panels of single nucleotide polymorphism (SNP) sites that are useful for additional discrimination. These panels were selected to be suitable for multiplex SNP typing assays, with 7–11 sites per panel. The panels are specific for one or more of the common HV1/HV2 types (or closely related types), permitting a directed approach that conserves limiting case specimen extracts while providing a maximal chance for additional discrimination. Discrimination provided by the panels reduces the frequency of the most common type in the European Caucasian population from ~7% to ~2%, and the 18 common types we analyzed are resolved to 105 different types, 55 of which are seen only once.


Human mitochondrial DNA genome Single nucleotide polymorphism Forensic DNA testing Increased forensic discrimination mtDNA coding region 



We thank interns Rachel Barry, Trina Bersola, Serena Filosa, Victoria Glynn, Carrie Guyan, William Ivory, Devon Pierce, and Jessica Saunier for assistance with sequence analysis and data tabulation; James Ross, Richard Coughlin, and Aaron Waldner for computer support; Jon Norris, Vinh Lam, and others from Future Technologies, Inc. for database development; Suzanne Barritt, Demris Lee, Tim McMahon, and James Thomas (AFDIL) for discussion; Walther Parson, Harrald Niederstätter, and Anita Brandstätter (ILM, Innsbruck) for discussion; John Butler and Pete Vallone (NIST) for discussion; Connie Fisher (FBI) for providing samples; Eliana Andrea and Michael Parry (American Registry of Pathology) for grant administration assistance; Mitchell Holland for early conceptual and administrative support; and Kevin (Scott) Carroll, James C. Canik, and Brion C. Smith (AFDIL) for logistical, administrative, and moral support. This work was supported by a National Institute of Justice grant 2000–1J-CX-K010 to T.J.P. The opinions and assertions contained herein are solely those of the authors and are not to be construed as official or as views of the U.S. Department of Defense, the U.S. Department of the Army, or the U.S. Department of Justice.


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Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Michael D. Coble
    • 1
    • 2
  • Rebecca S. Just
    • 1
  • Jennifer E. O’Callaghan
    • 1
  • Ilona H. Letmanyi
    • 1
  • Christine T. Peterson
    • 1
    • 3
  • Jodi A. Irwin
    • 1
  • Thomas J. Parsons
    • 1
  1. 1.The Armed Forces DNA Identification LaboratoryRockvilleUSA
  2. 2.The George Washington University Graduate Program in GeneticsWashingtonUSA
  3. 3.The Institute for Genomic ResearchRockvilleUSA

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