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

Michael Dewitt Coble, Rebecca S. Just, Jennifer E. O'Callaghan, Ilona H. Letmanyi, Christine T. Peterson, Jodi A. Irwin, Thomas J. Parsons

Research output: Contribution to journalArticle

170 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)137-146
Number of pages10
JournalInternational journal of legal medicine
Volume118
Issue number3
DOIs
StatePublished - 1 Jun 2004

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Mitochondrial DNA
Single Nucleotide Polymorphism
Genome
Population

Keywords

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

Cite this

Coble, Michael Dewitt ; Just, Rebecca S. ; O'Callaghan, Jennifer E. ; Letmanyi, Ilona H. ; Peterson, Christine T. ; Irwin, Jodi A. ; Parsons, Thomas J. / Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians. In: International journal of legal medicine. 2004 ; Vol. 118, No. 3. pp. 137-146.
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Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians. / Coble, Michael Dewitt; Just, Rebecca S.; O'Callaghan, Jennifer E.; Letmanyi, Ilona H.; Peterson, Christine T.; Irwin, Jodi A.; Parsons, Thomas J.

In: International journal of legal medicine, Vol. 118, No. 3, 01.06.2004, p. 137-146.

Research output: Contribution to journalArticle

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