Expanding beyond the current core STR loci: An exploration of 73 STR markers with increased diversity for enhanced DNA mixture deconvolution |
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| Institution: | 1. Department of Forensic Genetics and Forensic Toxicology, National Board of Forensic Medicine, Linköping, Sweden;2. Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, Linköping, Sweden;3. Forensic Genetics Unit, Institute of Legal Medicine, University of Santiago de Compostela, Santiago de Compostela, Spain;1. Dipartimento di Chimica, Università degli Studi di Torino, Via P. Giuria 7, 10125, Torino, Italy;2. Centro Regionale Antidoping e di Tossicologia “A. Bertinaria”, Regione Gonzole 10/1, 10043, Orbassano, Torino, Italy;3. Accademia Italiana di Scienze Forensi, Viale Regina Margherita 9/D, 42124, Reggio Emilia, Italy;1. Nichevision Forensics, LLC., 526 South Main St., Akron, OH, 44311, USA;2. U.S. National Institute of Standards and Technology, Biomolecular Measurement Division, 100 Bureau Drive, Gaithersburg, MD, 20899-8314, USA;3. Department of Chemistry and Biochemistry and International Forensic Research Institute, Florida International University, University Park, Miami, FL, 33199, USA;1. Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria;2. Forensic Science Program, The Pennsylvania State University, University Park, PA, USA;3. Faculty of Life Sciences, King’s College, London, UK;4. Institute of Applied Genetics, Department of Molecular and Medical Genetics, University of North Texas Health Science Center, Fort Worth, TX, USA;5. Center of Excellence in Genomic Medicine Research (CEGMR), King Abdulaziz University, Jeddah, Saudi Arabia;6. National Institute of Standards and Technology, Gaithersburg, MD, USA;7. Norwegian Institute of Public Health, Department of Forensic Biology, Oslo, Norway;8. Department of Forensic Medicine, University of Oslo, Oslo, Norway;9. DNA Diagnostic Laboratory (LDD), State University of Rio de Janeiro (UERJ), Brazil;10. IPATIMUP, Institute of Molecular Pathology and Immunology of the University of Porto, Portugal;11. Instituto de Investigação e Inovação em Saúde, University of Porto, Portugal;12. FBI Laboratory, Quantico, VA, USA;13. Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands;14. Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark;15. Department of Sciences, John Jay College for Criminal Justice, New York, NY, USA;p. Institute of Legal Medicine, Medical Faculty, University of Cologne, Cologne, Germany;q. Laboratory of Pharmaceutical Biotechnology, Faculty of Pharmaceutical Sciences, Ghent University, Ghent, Belgium;r. Institute of Legal Medicine, Humboldt University, Berlin, Germany;s. Forensic Genetics Unit, Institute of Forensic Sciences, University of Santiago de Compostela, Galicia, Spain;1. Institute of Applied Genetics, Department of Molecular and Medical Genetics, University of North Texas Health Science Center, 3500 Camp Bowie Blvd. Fort Worth, TX 76107, USA;2. Department of Chemistry Malaysia Kuching, Ministry of Science, Technology and Innovation (MOSTI) Malaysia;3. Center of Excellence in Genomic Medicine Research (CEGMR), King Abdulaziz University, Jeddah, Saudi Arabia |
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| Abstract: | Current approaches to mixture deconvolution of complex biological samples at times do not have the capability to resolve component contributors in DNA evidence. Additional short tandem repeat (STR) loci were sought that may improve the forensic genetic analysis of mixtures. This study presents exploratory data of a multiplex comprised of 73 highly polymorphic STRs (referred herein as the 73Plex) that were selected because of their high diversity due to sequence variation. These STRs (or a subset of them) may be considered as candidates that may augment current core markers capabilities for DNA mixture deconvolution. Population genetics analyses were performed for each locus using DNA samples from 451 individuals comprising three U.S. populations. Sequence-based heterozygosities ranged from 72% to 98%, where only two loci (D10A97 and D6A7) fell below 80%. Mixture deconvolution capabilities for two-person mixtures were assessed based on complete allele resolution per locus (i.e., four alleles observed) of pairwise mixtures using in silico methods. A subset of 20 highly informative loci (referred herein as the 20Plex) from the 73Plex was compared to the 20 CODIS core loci on all population samples with full DNA profiles for both panels (i.e., no locus dropout; n = 443). Based on proportion of loci displaying four alleles, the 20Plex outperformed the CODIS core loci with increases of 82.6% and 89.3% using length-based and sequence-based alleles, respectively. A combination of 17 STR from the 20Plex and 3 CODIS loci gave the highest capacity for resolving allelic components per locus. These data illustrate the increased value of utilizing sequenced-based alleles of additional STR loci. Furthermore, there are a number of candidate STR loci that could notably augment the current core STR loci and enhance mixture interpretation capabilities. |
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| Keywords: | Short tandem repeats Sequence variation DNA mixtures Mixture deconvolution |
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