The effects of Asian population substructure on Y STR forensic analyses |
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| Institution: | 1. Federal Bureau of Investigation, 2501 Investigation Parkway, Quantico, VA 22135, USA;2. Department of Biomedical Engineering, University of Cincinnati, Cincinnati, OH 45221, USA;3. DNA Profiling Laboratory, Centre for Forensic Science, Health Sciences Authority, 11 Outram Road, 169078 Singapore, Singapore;4. Forensic DNA Laboratory, Department of Chemistry, Petaling Jaya, Malaysia;5. Fourth Biology Section, Department of First Forensic Science, National Research Institute of Police Science, 6-3-1, Kashiwanoha, Kashiwa, Chiba 277-0882, Japan;6. Center for Genome Information, Department of Environmental Health, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA;1. DNA Diagnostic Laboratory (LDD), Institute of Biology, State University of Rio de Janeiro (UERJ), Rio de Janeiro, Brazil;2. IPATIMUP – Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal;3. FCUP – Faculty of Sciences of the University of Porto, Porto, Portugal;1. Institut für Medizinische Informatik und Statistik, Kiel, Germany;2. Charite-Universitätsmedizin Berlin, Institute of Legal Medicine and Forensic Sciences, Department of Forensic Genetics, Berlin, Germany;1. Armed Forces Medical Examiner System, Dover Air Force Base, DE, USA;2. SNA International, Alexandria, VA, USA;3. Forensic Science Program, The Pennsylvania State University, University Park, PA, USA;4. Defense POW/MIA Accounting Agency, Joint Base Pearl Harbor-Hickam, HI, USA;5. Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden |
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| Abstract: | A total of 3046 males of Chinese, Malay, Thai, Japanese, and Indian population affinity were previously typed for the Y STR loci DYS19, DYS385 (counted as two loci), DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS456, DYS458, DYS635, DYS448, and Y GATA H4 using the AmpFlSTR® Yfiler? kit. These samples were assessed for population genetic parameters that impact forensic statistical calculations. All population samples were highly polymorphic for the 16 Y STR markers with the marker DYS385 being the most polymorphic, because it is comprised of two loci. Most (2677 out of a total of 2806 distinct haplotypes) of the 16 marker haplotypes observed in the sample populations were represented only once in the data set. Haplotype diversities were greater than 99.57% for the Chinese, Malay, Thai, Japanese, and Indian sample populations. For the Y STR markers, population substructure correction was considered when calculating the rarity of a Y STR profile. An FST value, rather than a RST value, is more appropriate under a forensic model. Because the FST values are very small within the Asian populations, the estimate of the rarity of a haplotype comprised of 10–16 markers does not need substructure correction. However haplotypes with fewer markers may require FST corrections when calculating the rarity of the profile. |
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