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Use of Mitochondrial DNA Single Nucleotide Polymorphisms to Assist in the Resolution of Three Challenging Forensic Cases

NCJ Number
227713
Journal
Journal of Forensic Sciences Volume: 54 Issue: 4 Dated: July 2009 Pages: 887-891
Author(s)
Rebecca S. Just M.F.S.; Mark D. Leney Ph.D.; Suzanne M. Barritt M.S.; Christopher W. Los M.S.F.S.; Brion C. Smith D.D.S.; Thomas D. Holland Ph.D.; Thomas J. Parsons Ph.D.
Date Published
July 2009
Length
5 pages
Annotation
This paper reports on the typing of mitochondrial DNA (mtDNA) single nucleotide polymorphisms (SNPs) in an 11-plex assay in 3 missing persons cases that involved highly degraded human remains.
Abstract
The three cases described represent applications of an mtDNA SNP assay in order to confirm or add weight to identifications of degraded human remains in cases that could not be resolved by mtDNA hypervariable region sequencing alone. In all 3 cases, the typing of 11 (mostly coding region) SNPs provided additional information that assisted in the identification of some skeletal elements. The two cases that were fully resolved through the application of the mtDNA SNPs were typical cases for which an mtDNA SNP assay would prove highly useful, i.e., cases for which partial or entire Control Region (CR) sequencing could not exclude multiple reference families as a match to the case samples. The third case, however represents an additional use for these assays, which is the sorting of samples and reassociation of skeletal elements. In this case, SNP typing added an additional variable position, thus confirming that four samples had originated from two individuals. The six remaining samples were resolved as the final two missing individuals through the application of low copy number LCN short tandem repeat (STR) typing. The SNP assay used in the resolution of these cases was specifically designed to provide additional discrimination when the most common Caucasian hypervariable region (HV) type was encountered. 1 table and 32 references