Continental and subcontinental distributions of mtDNA control region types

Peter Forster, Francesco Calì, Arne Röhl, Ene Metspalu, Rosalba D'Anna, Mario Mirisola, Giacomo De Leo, Anna Flugy, Alfredo Salerno, Giovanni Ayala, Anastasia Kouvatsi, Richard Villems, Valentino Romano

Research output: Contribution to journalArticle

Abstract

When the mtDNA profile of a crime scene matches that of a suspect, it is necessary to determine the probability of a chance match by consulting the frequencies of the identified allele in a "reference population". The ceiling principle suggests that that population should be chosen in which the allele of the suspect is found at the highest frequency, in order to give the suspect the maximum benefit of doubt. Recently, we advocated the use of a worldwide mitochondrial database combined with a geographical information system to identify the regions of the world with the highest frequencies of matching mtDNA types. Here, we demonstrate that the alternative approach of defining a ceiling reference population on the basis of continent or phenotype (race) is too coarse for a non-negligible percentage of mtDNA control region types.

Original languageEnglish
Pages (from-to)99-108
Number of pages10
JournalInternational Journal of Legal Medicine
Volume116
Issue number2
DOIs
Publication statusPublished - 2002

Keywords

  • DNA fingerprint
  • Ethnic
  • Greece
  • Maternal descent
  • Sicily

ASJC Scopus subject areas

  • Medicine (miscellaneous)
  • Pathology and Forensic Medicine
  • Law

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  • Cite this

    Forster, P., Calì, F., Röhl, A., Metspalu, E., D'Anna, R., Mirisola, M., De Leo, G., Flugy, A., Salerno, A., Ayala, G., Kouvatsi, A., Villems, R., & Romano, V. (2002). Continental and subcontinental distributions of mtDNA control region types. International Journal of Legal Medicine, 116(2), 99-108. https://doi.org/10.1007/s00414-001-0261-z