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01-06-2004 | Original Article

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

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

Published in: International Journal of Legal Medicine | Issue 3/2004

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.

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Title: Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians
Authors: Michael D. Coble
Rebecca S. Just
Jennifer E. O’Callaghan
Ilona H. Letmanyi
Christine T. Peterson
Jodi A. Irwin
Thomas J. Parsons
Publication date: 01-06-2004
Publisher: Springer-Verlag
Published in: International Journal of Legal Medicine / Issue 3/2004
Print ISSN: 0937-9827
Electronic ISSN: 1437-1596
DOI: https://doi.org/10.1007/s00414-004-0427-6

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

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