International Journal of Legal Medicine

, Volume 119, Issue 5, pp 314–315 | Cite as

Forensic analysis of the mitochondrial coding region and association to disease

  • B. Budowle
  • U. Gyllensten
  • R. Chakraborty
  • M. Allen
Letter to the Editor

Coble et al. [3] and Vallone et al. [5] have proposed that forensic analyses of the coding region in the mitochondrial DNA (mtDNA) should be restricted to synonymous substitutions only to avoid detection of changes with phenotypic expression. They suggest that sequencing strategies for forensic analyses of the coding region of the mtDNA genome should be avoided due to potential risk of obtaining personal disease state information and that only SNP-based systems should be employed. We disagree with this proposition as applying such a strict criterion is not well thought-out and also would severely hamper the use of mtDNA in forensic testing. There are a number of reasons not to limit the analyses in the way suggested by these authors.

First, most of the disorders associated with mtDNA mutations are uncommon or rare and have variable penetrance. At the mitomap website (, over 80 mtDNA substitutions have been reported as associated with disease. Of these, 17 are...


Forensic Analysis Paternity Testing Synonymous Change Nuclear Gene Mutation Code Region Polymorphism 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. 1.
    Brown MD, Starikovskaya E, Derbeneva O et al (2002) The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup. J Hum Genet 110:130–138Google Scholar
  2. 2.
    Carelli V, Giordano C, d’Amati G (2003) Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear–mitochondrial interaction. Trends Genet 19:257–262Google Scholar
  3. 3.
    Coble MD, Just RS, O’Callaghan JE, Letmanyi IH, Peterson CT, Irwin JA, Parsons TJ (2004) Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians. Int J Leg Med 118:137–146Google Scholar
  4. 4.
    Gabriel MN, Calloway CD, Reynolds RL, Primorac D (2003) Identification of human remains by immobilized sequence-specific oligonucleotide probe analysis of mtDNA hypervariable regions I and II. Croat Med J 44:293–298Google Scholar
  5. 5.
    Vallone PM, Just RS, Coble MD, Butler JM, Parsons TJ (2004) A multiplex allele-specific primer extension assay for forensically informative SNPs distributed throughout the mitochondrial genome. Int J Leg Med 118:147–157Google Scholar
  6. 6.
    van der Walt JM, Dementieva YA, Martin ER, Scott WK et al (2004) Analysis of European mitochondrial haplogroups with Alzheimer disease risk. Neurosci Lett 15(365):28–32Google Scholar

Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • B. Budowle
    • 1
  • U. Gyllensten
    • 2
  • R. Chakraborty
    • 3
  • M. Allen
    • 2
  1. 1.FBI LaboratoryQuanticoUSA
  2. 2.Department of Genetics and PathologyUppsala UniversityUppsalaSweden
  3. 3.Department of Environmental HealthUniversity of CincinnatiOhioUSA

Personalised recommendations