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Evaluation of mitochondrial DNA coding region assays for increased discrimination in forensic analysis
Institution:1. Department of Forensic Medicine, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722, South Korea;2. Forensic DNA division, National Forensic Service, 10 Ipchun-ro, Wonju-si, Gangwon-do 26460, South Korea;1. Institute of Biology and Medical Genetics of the First Faculty of Medicine and General University Hospital in Prague, Charles University in Prague, Czech Republic;2. Institute of Forensic Medicine and Toxicology of the First Faculty of Medicine and General University Hospital in Prague, Charles University in Prague, Czech Republic;3. Institute of Criminalistics Prague, Police of the Czech Republic, Czech Republic;1. Division of Clinical Immunology, Kitasato University Graduate School of Medicine, Kanagawa, Japan;2. Research Facility Center for Regenerative Medicine and Cell Design, Kitasato University School of Allied Health Sciences, Kanagawa, Japan;3. Division of Biochemistry, Kitasato University School of Allied Health Sciences, Kanagawa, Japan;1. Institute of Forensic Medicine, West China College of Preclinical and Forensic Medicine, Sichuan University (West China University of Medical Sciences), PO Box 610041, No. 16, Section 3, RenMin Nan Road, Chengdu, Sichuan, PR China;2. Department of Clinical Microbiology and Immunology, Faculty of Medical Laboratory Science, Third Military Medical University, PO Box 400038, No. 30, Gaotanyan Street, Shapingba District, Chongqing, PR China;3. Department of Forensic Science, School of Basic Medical Sciences, Central South University, PO Box 410000, No. 87, XiangYa Road, Changsha, Hunan, PR China;1. Department of Forensic Genetics, Institute of Legal Medicine and Forensic Sciences, Charité-Universitätsmedizin, Berlin, Germany;2. Department of Statistical Genetics and Bioinformatics, Cologne Center for Genomics, University of Cologne, Germany;3. Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal;4. Department of Biology, Faculty of Sciences, University of Porto, Portugal;5. Philippine National Police Crime Laboratory, Quezon City, Philippines;6. Institut für Rechtsmedizin, Ludwig-Maximilians-Universität, München, Germany;7. The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK;8. Department of Forensic Medicine, University of Zaragoza, Spain;9. GenoID Forensic DNA Laboratory, Department of Genetics, Eötvös Loránd University, Budapest, Hungary;10. Institut für Rechtsmedizin, Universität Basel, Switzerland;11. Department of Forensic and Analytical Science, King''s College London, London, UK;12. Forensic Sciences Department, Poder Judicial, Heredia, Costa Rica;13. Landeskriminalamt Baden-Württemberg, Germany;14. Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria;15. Penn State Eberly College of Science, University Park, PA, USA;p. Institute of Applied Genetics and Department of Molecular and Medical Genetics, Ft. Worth, USA;q. Center of Excellence in Genomic Medicine Research (CEGMR), King Abdulaziz University, Jeddah, Saudi Arabia;r. Forensische Genetik, Kantonsspital Aarau AG, Switzerland;s. Laboratorio de Diagnósticos por DNA, Instituto de Biologia, Universidade do Estado do Rio de Janeiro, Brazil;t. Human DNA Diagnostics Laboratory, Beirut, Lebanon;u. National Institute of Standards and Technology, Gaithersburg, USA;v. Universidad de Buenos Aires, Facultad de Farmacia y Bioquimica, Servicio de Huellas Digitales Genetica and CONICET (National Scientific and Technical Research Council), Buenos Aires, Argentina;w. University of the Western Cape, Biotechnology Department, Forensic DNA Laboratory, Cape Town, South Africa;x. KU Leuven, Department of Imaging & Pathology, Laboratory of Forensic Genetics and Molecular Archaeology, Leuven, Belgium;y. Centre of Molecular Antropology For Ancient DNA Studies, Department of Biology, University of Rome Tor Vergata, Italy;z. Collaborative Innovation Center of Judicial Civilization, Institute of Evidence Law and Forensic Science, China University of Political Science and Law, Beijing, China;11. Institute of Forensic Medicine, Medical University, Wroclaw, Poland;12. Illinois State Police, Research & Development Laboratory, Springfield, USA;13. Department of Forensic Medicine and Criminology, University of Zagreb, Croatia;14. University Center of Legal Medicine, Lausanne-Geneva, Lausanne, Switzerland;15. Forensic Science Centre “Ivan Vucetic”, General Police Directorate, Ministry of Interior, Zagreb, Croatia;16. Institut für Rechtsmedizin, Universität Zürich, Switzerland;17. National Forensic Laboratory, Ljubljana, Slovenia;18. Department of Legal Medicine, Faculty of Medicine, University of Tsukuba, Japan;19. Institute of Forensic Medicine, West China School of Basic Science and Forensic Medicine Sichuan University, Chengdu, China;110. Molecular Biology and Forensic Genetics Laboratory, Shantou University Medical College, Shantou, China;111. Institut für Rechtsmedizin, Universität Halle, Germany;112. Institute for Forensic Medicine and Criminalistics, Medical Faculty, University “Ss. Cyril and Methodius“, Skopje, Macedonia;113. Institut für Rechtsmedizin, Universitätsmedizin Greifswald, Germany;114. Forensic Laboratory for DNA Research, Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands;115. Subdivision of Biological and Biochemical Examinations and Analyses F.S.D. – Hellenic Police, Athens, Greece;1p. Institute for Genetic Engineering and Biotechnology, Sarajevo, Bosnia and Herzegovina;1q. Institut für Rechtsmedizin, Universität Rostock, Germany;1r. Molecular Biology Laboratory, American University of Science and Technology Beirut, Lebanon and School of Criminal Justice, University of Lausanne, Switzerland;1s. Laboratorio de Análisis de ADN, FCM - National University of Cuyo, Mendoza, Argentina;1t. Instituto Nacional de Toxicología y Ciencias Forenses, Madrid, Spain;1u. Departamento de Biologia, Universidade de Aveiro, Portugal;1v. National Research Institute of Police Science, Chiba, Japan;1w. Instituto de Biologia, Universidade Federal do Rio de Janeiro and DIMAV/INMETRO, Brazil;1x. Instituto de Biologia do Exército, Rio de Janeiro, Brazil;1y. Instituto de Biofísica Carlos Chagas Filho, Universidade Federal do Rio de Janeiro, Brazil;1z. Institut für Rechtsmedizin, Universität Leipzig, Germany;21. School of Forensic Medicine, Kunming Medical University, Kunming, China;22. Department of Criminal Investigation, Xuanwei Public Security Bureau, Xuanwei, China;23. Department of Criminal Investigation, Yunnan Provincial Public Security Bureau, Kunming, China;24. BIOMICs Research Group, Universidad del País Vasco, Vitoria, Spain;25. Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark;26. Section of Legal Medicine, Università Politecnica delle Marche, Ancona, Italy;27. DNA Laboratory, Institute for Forensic Medicine, Network of Forensic Science Institutes, Ministry of Public Administration and Justice, Budapest, Hungary;28. Forensic Genetics Laboratory, Institute of Forensic Medicine, Medical University of Gdansk, Poland;29. Department of Medical and Surgical Sciences (DIMEC), Institute of Legal Medicine, School of Medicine, University of Bologna, Italy;210. Department of Forensic Medicine, Medical University of Bialystok, Poland;211. Department of Forensic Medicine, Medical University Poznan, Poland;212. Unidade de Xenética Forense, Instituto de Ciencias Forenses, Grupo de Medicina Xenómica, Facultade de Medicina, Universidade de Santiago de Compostela, Spain;213. Forensic Genetics Laboratory, Institute of Legal Medicine, Università Cattolica del Sacro Cuore, Rome, Italy;214. Department of Zoology, University of Oxford, Oxford, UK;215. PRICAI-Fundación Favaloro, Buenos Aires, Argentina;2p. Forensic Genetics Laboratory, Department of Human Morphology and Biomedical Sciences, Università degli Studi di Milano, Italy;2q. Interdisciplinary Department of Medicine, Section of Legal Medicine, University of Bari, Italy;2r. Department of Medical Genetics, Warsaw Medical University, Poland;2s. Department of Forensic Medicine, Warsaw Medical University, Poland;2t. Department of Public Health Sciences and Pediatrics, University of Turin, Italy;2u. Department of Forensic Medicine, University of Helsinki, Finland;2v. DNA Analysis Laboratory, Natural Sciences Research Institute, University of the Philippines Diliman, Philippines;2w. Institute of Biological Sciences, University of the Philippines Los Baños, Laguna, Philippines;2x. Institut für Rechtsmedizin, Universitätsklinikum Freiburg, Germany;2y. Department of Forensic Medicine, University of Turku, Finland;2z. Institute of Legal Medicine, Faculty of Medicine, University of Cologne, Germany;31. Department of Forensic Medicine, Yonsei University College of Medicine, Seoul, South Korea;32. Athens Dept. of Legal Medicine, DNA Analysis Laboratory, Athens, Greece;33. Department of Basic Medical Sciences, University of the West Indies, Kingston, Jamaica;34. Laboratorio Genetix S.A., Panamá, Panama;35. Laboratory of Forensic Genetics, Institute of Criminalistics, Prague, Czech Republic;36. Department of Forensic Genetics and Forensic Toxicology, National Board of Forensic Medicine, Linköping, Sweden;37. Sezione di Medicina Legale, Dipartimento di Medicina e Sanità Pubblica, Università degli Studi di Verona, Italy;38. Istituto di Medicina Legale, Universitá degli Studi di Brescia, Italy;39. Department of Genetics, University of Leicester, UK;310. Genomic Engenharia Molecular Ltda., Sao Paulo, Brazil;311. Institute of Forensic Research, Krakow, Poland;312. Defence Medical & Environmental Research Institute, DSO National Laboratories, Singapore;313. Institute of Medical Informatics and Statistics, Christian-Albrechts University Kiel, Germany;1. Laboratório de Genética Forense, Instituto Nacional de Criminalística, Diretoria Técnico-Científica, Polícia Federal, Brasília, DF, Brazil;2. UFES – Universidade Federal do Espírito Santo, CCA Alegre, Espírito Santo, Brazil;3. UNESP – Univ Estadual Paulista, Faculdade de Ciências Farmacêuticas, Araraquara, São Paulo, Brazil
Abstract:There is an increasing trend to use mitochondrial DNA (mtDNA) analysis in criminal investigations where only limited amounts of DNA are available. However, analysis of the mtDNA control region has the drawback of low discrimination power, due to the lack of recombination that results from uniparental (maternal) inheritance. As a strategy to increase discrimination, a number of typing assays detecting variation in the mitochondrial coding region have been developed. In this study, several of these assays are evaluated for their discriminatory capacity using data obtained from 495 complete Caucasian mtDNA sequences. In order to add a local geographic perspective to this evaluation, we have also sequenced and analysed the entire mtDNA from 20 individuals of Swedish origin. We find that the coding region assays are very useful for resolving sequences with identical HVI/HVII regions. The best-performing coding region assay was able to discriminate 46% of the resolvable sequences, compared to 20–30% for the other coding region assays we evaluated.
Keywords:
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