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Analysis of Global Variability in 15 Established and 5 New European Standard Set (ESS) STRs Using the CEPH Human Genome Diversity Panel

NCJ Number
234609
Journal
Forensic Science International: Genetics Volume: 5 Issue: 3 Dated: June 2011 Pages: 155-169
Author(s)
C. Phillips; L. Fernandez-Formoso; M. Garcis-Magarinos; L. Porras; T. Tvedebrink; J. Amigo; M. Fondevila; A. Gomez-Tato; J. Alvarez-Dios; A. Freire-Aradas; A. Gomez-Carballa; A. Mosquera-Miguel; A. Carracedo; M.V. Lareu
Date Published
June 2011
Length
15 pages
Annotation
This study explored the effectiveness of the CEPH human genome diversity panel in analyzing patterns of variability in 20 core human identification STRs.
Abstract
The study found that the CEPH human genome diversity panel (CEPH-HGDP) allowed for an assessment of marker variability across a wider geographic scope than was normally possible, and that this greater variability will allow for the introduction of new European Standard Set (ESS) STRs. The study used the CEPH-HGDP of 51 globally distributed populations to analyze patterns of variability in 20 core human identification STRs: 15 STRs of Identifiler, one of the most widely used forensic STR multiplexes, and 5 recently introduced ESS STRs - D1S1656, D2S441, D10S1248, D12S391, and D22S1045. The intent of the study was to determine the ability of the new ESS 15-plex to provide reliable and substantive information for paternity and identification analyses. The study was able to identify rare, intermediate, or off-ladder alleles from the genotypes obtained from the five ESS STRs used in the study. These alleles had not previously been reported for the loci in the study. The new ESS STR alleles that were identified were characterized by sequence analysis that revealed extensive repeat structure variation in three of the ESS STRs. In addition, an assessment was made of the forensic informativeness of the new ESS STRs compared to the loci that they will replace. The assessment found that using multiplexes that genotype the new ESS loci can result in enhanced discrimination power in nearly all populations when conducting forensic analyses. Figures, tables, and references