A global analysis of Y-chromosomal haplotype diversity for 23 STR loci

Josephine Purps¹, Sabine Siegert², Sascha Willuweit¹, Marion Nagy¹, Cíntia Alves³, Renato Salazar⁴, Sheila M T Angustia⁵, Lorna H Santos⁵, Katja Anslinger⁶, Birgit Bayer⁶, Qasim Ayub⁷, Wei Wei⁷, Yali Xue⁷, Chris Tyler-Smith⁷, Miriam Baeta Bafalluy⁸, Begoña Martínez-Jarreta⁸, Balazs Egyed⁹, Beate Balitzki¹⁰, Sibylle Tschumi¹⁰, David Ballard¹¹, Denise Syndercombe Court¹¹, Xinia Barrantes¹², Gerhard Bäßler¹³, Tina Wiest¹³, Burkhard Berger¹⁴, Harald Niederstätter¹⁴, Walther Parson¹⁵, Carey Davis¹⁶, Bruce Budowle¹⁷, Helen Burri¹⁸, Urs Borer¹⁸, Christoph Koller¹⁸, Elizeu F Carvalho¹⁹, Patricia M Domingues¹⁹, Wafaa Takash Chamoun²⁰, Michael D Coble²¹, Carolyn R Hill²¹, Daniel Corach²², Mariela Caputo²², Maria E D'Amato²³, Sean Davison²³, Ronny Decorte²⁴, Maarten H D Larmuseau²⁴, Claudio Ottoni²⁴, Olga Rickards²⁵, Di Lu²⁶, Chengtao Jiang²⁶, Tadeusz Dobosz²⁷, Anna Jonkisz²⁷, William E Frank²⁸, Ivana Furac²⁹, Christian Gehrig³⁰, Vincent Castella³⁰, Branka Grskovic³¹, Cordula Haas³², Jana Wobst³², Gavrilo Hadzic³³, Katja Drobnic³³, Katsuya Honda³⁴, Yiping Hou³⁵, Di Zhou³⁵, Yan Li³⁵, Shengping Hu³⁶, Shenglan Chen³⁶, Uta-Dorothee Immel³⁷, Rüdiger Lessig³⁷, Zlatko Jakovski³⁸, Tanja Ilievska³⁸, Anja E Klann³⁹, Cristina Cano García³⁹, Peter de Knijff⁴⁰, Thirsa Kraaijenbrink⁴⁰, Aikaterini Kondili⁴¹, Penelope Miniati⁴¹, Maria Vouropoulou⁴¹, Lejla Kovacevic⁴², Damir Marjanovic⁴², Iris Lindner⁴³, Issam Mansour⁴⁴, Mouayyad Al-Azem⁴⁴, Ansar El Andari⁴⁴, Miguel Marino⁴⁵, Sandra Furfuro⁴⁵, Laura Locarno⁴⁵, Pablo Martín⁴⁶, Gracia M Luque⁴⁶, Antonio Alonso⁴⁶, Luís Souto Miranda⁴⁷, Helena Moreira⁴⁷, Natsuko Mizuno⁴⁸, Yasuki Iwashima⁴⁸, Rodrigo S Moura Neto⁴⁹, Tatiana L S Nogueira⁵⁰, Rosane Silva⁵¹, Marina Nastainczyk-Wulf⁵², Jeanett Edelmann⁵², Michael Kohl⁵², Shengjie Nie⁵³, Xianping Wang⁵⁴, Baowen Cheng⁵⁵, Carolina Núñez⁵⁶, Marian Martínez de Pancorbo⁵⁶, Jill K Olofsson⁵⁷, Niels Morling⁵⁷, Valerio Onofri⁵⁸, Adriano Tagliabracci⁵⁸, Horolma Pamjav⁵⁹, Antonia Volgyi⁵⁹, Gusztav Barany⁵⁹, Ryszard Pawlowski⁶⁰, Agnieszka Maciejewska⁶⁰, Susi Pelotti⁶¹, Witold Pepinski⁶², Monica Abreu-Glowacka⁶³, Christopher Phillips⁶⁴, Jorge Cárdenas⁶⁴, Danel Rey-Gonzalez⁶⁴, Antonio Salas⁶⁴, Francesca Brisighelli⁶⁵, Cristian Capelli⁶⁶, Ulises Toscanini⁶⁷, Andrea Piccinini⁶⁸, Marilidia Piglionica⁶⁹, Stefania L Baldassarra⁶⁹, Rafal Ploski⁷⁰, Magdalena Konarzewska⁷⁰, Emila Jastrzebska⁷¹, Carlo Robino⁷², Antti Sajantila⁷³, Jukka U Palo⁷⁴, Evelyn Guevara⁷⁴, Jazelyn Salvador⁷⁵, Maria Corazon De Ungria⁷⁵, Jae Joseph Russell Rodriguez⁷⁶, Ulrike Schmidt⁷⁷, Nicola Schlauderer⁷⁷, Pekka Saukko⁷⁸, Peter M Schneider⁷⁹, Miriam Sirker⁷⁹, Kyoung-Jin Shin⁸⁰, Yu Na Oh⁸⁰, Iulia Skitsa⁸¹, Alexandra Ampati⁸¹, Tobi-Gail Smith⁸², Lina Solis de Calvit⁸³, Vlastimil Stenzl⁸⁴, Thomas Capal⁸⁴, Andreas Tillmar⁸⁵, Helena Nilsson⁸⁵, Stefania Turrina⁸⁶, Domenico De Leo⁸⁶, Andrea Verzeletti⁸⁷, Venusia Cortellini⁸⁷, Jon H Wetton⁸⁸, Gareth M Gwynne⁸⁸, Mark A Jobling⁸⁸, Martin R Whittle⁸⁹, Denilce R Sumita⁸⁹, Paulina Wolańska-Nowak⁹⁰, Rita Y Y Yong⁹¹, Michael Krawczak⁹², Michael Nothnagel², Lutz Roewer⁹³

Affiliations

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 Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal; 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 Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria; Penn State Eberly College of Science, University Park, PA, USA.
¹⁶ Institute of Applied Genetics and Department of Molecular and Medical Genetics, Ft. Worth, USA.
¹⁷ Institute of Applied Genetics and Department of Molecular and Medical Genetics, Ft. Worth, USA; Center of Excellence in Genomic Medicine Research (CEGMR), King Abdulaziz University, Jeddah, Saudi Arabia.
¹⁸ Forensische Genetik, Kantonsspital Aarau AG, Switzerland.
¹⁹ Laboratorio de Diagnósticos por DNA, Instituto de Biologia, Universidade do Estado do Rio de Janeiro, Brazil.
²⁰ Human DNA Diagnostics Laboratory, Beirut, Lebanon.
²¹ National Institute of Standards and Technology, Gaithersburg, USA.
²² 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.
²³ University of the Western Cape, Biotechnology Department, Forensic DNA Laboratory, Cape Town, South Africa.
²⁴ KU Leuven, Department of Imaging & Pathology, Laboratory of Forensic Genetics and Molecular Archaeology, Leuven, Belgium.
²⁵ Centre of Molecular Antropology For Ancient DNA Studies, Department of Biology, University of Rome Tor Vergata, Italy.
²⁶ Collaborative Innovation Center of Judicial Civilization, Institute of Evidence Law and Forensic Science, China University of Political Science and Law, Beijing, China.
²⁷ Institute of Forensic Medicine, Medical University, Wroclaw, Poland.
²⁸ Illinois State Police, Research & Development Laboratory, Springfield, USA.
²⁹ Department of Forensic Medicine and Criminology, University of Zagreb, Croatia.
³⁰ University Center of Legal Medicine, Lausanne-Geneva, Lausanne, Switzerland.
³¹ Forensic Science Centre "Ivan Vucetic", General Police Directorate, Ministry of Interior, Zagreb, Croatia.
³² Institut für Rechtsmedizin, Universität Zürich, Switzerland.
³³ National Forensic Laboratory, Ljubljana, Slovenia.
³⁴ Department of Legal Medicine, Faculty of Medicine, University of Tsukuba, Japan.
³⁵ Institute of Forensic Medicine, West China School of Basic Science and Forensic Medicine Sichuan University, Chengdu, China.
³⁶ Molecular Biology and Forensic Genetics Laboratory, Shantou University Medical College, Shantou, China.
³⁷ Institut für Rechtsmedizin, Universität Halle, Germany.
³⁸ Institute for Forensic Medicine and Criminalistics, Medical Faculty, University "Ss. Cyril and Methodius", Skopje, Macedonia.
³⁹ Institut für Rechtsmedizin, Universitätsmedizin Greifswald, Germany.
⁴⁰ Forensic Laboratory for DNA Research, Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
⁴¹ Subdivision of Biological and Biochemical Examinations and Analyses F.S.D. - Hellenic Police, Athens, Greece.
⁴² Institute for Genetic Engineering and Biotechnology, Sarajevo, Bosnia and Herzegovina.
⁴³ Institut für Rechtsmedizin, Universität Rostock, Germany.
⁴⁴ Molecular Biology Laboratory, American University of Science and Technology Beirut, Lebanon and School of Criminal Justice, University of Lausanne, Switzerland.
⁴⁵ Laboratorio de Análisis de ADN, FCM - National University of Cuyo, Mendoza, Argentina.
⁴⁶ Instituto Nacional de Toxicología y Ciencias Forenses, Madrid, Spain.
⁴⁷ Departamento de Biologia, Universidade de Aveiro, Portugal.
⁴⁸ National Research Institute of Police Science, Chiba, Japan.
⁴⁹ Instituto de Biologia, Universidade Federal do Rio de Janeiro and DIMAV/INMETRO, Brazil.
⁵⁰ Instituto de Biologia do Exército, Rio de Janeiro, Brazil.
⁵¹ Instituto de Biofísica Carlos Chagas Filho, Universidade Federal do Rio de Janeiro, Brazil.
⁵² Institut für Rechtsmedizin, Universität Leipzig, Germany.
⁵³ School of Forensic Medicine, Kunming Medical University, Kunming, China.
⁵⁴ Department of Criminal Investigation, Xuanwei Public Security Bureau, Xuanwei, China.
⁵⁵ Department of Criminal Investigation, Yunnan Provincial Public Security Bureau, Kunming, China.
⁵⁶ BIOMICs Research Group, Universidad del País Vasco, Vitoria, Spain.
⁵⁷ Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark.
⁵⁸ Section of Legal Medicine, Università Politecnica delle Marche, Ancona, Italy.
⁵⁹ DNA Laboratory, Institute for Forensic Medicine, Network of Forensic Science Institutes, Ministry of Public Administration and Justice, Budapest, Hungary.
⁶⁰ Forensic Genetics Laboratory, Institute of Forensic Medicine, Medical University of Gdansk, Poland.
⁶¹ Department of Medical and Surgical Sciences (DIMEC), Institute of Legal Medicine, School of Medicine, University of Bologna, Italy.
⁶² Department of Forensic Medicine, Medical University of Bialystok, Poland.
⁶³ Department of Forensic Medicine, Medical University Poznan, Poland.
⁶⁴ Unidade de Xenética Forense, Instituto de Ciencias Forenses, Grupo de Medicina Xenómica, Facultade de Medicina, Universidade de Santiago de Compostela, Spain.
⁶⁵ Unidade de Xenética Forense, Instituto de Ciencias Forenses, Grupo de Medicina Xenómica, Facultade de Medicina, Universidade de Santiago de Compostela, Spain; Forensic Genetics Laboratory, Institute of Legal Medicine, Università Cattolica del Sacro Cuore, Rome, Italy.
⁶⁶ Unidade de Xenética Forense, Instituto de Ciencias Forenses, Grupo de Medicina Xenómica, Facultade de Medicina, Universidade de Santiago de Compostela, Spain; Department of Zoology, University of Oxford, Oxford, UK.
⁶⁷ Unidade de Xenética Forense, Instituto de Ciencias Forenses, Grupo de Medicina Xenómica, Facultade de Medicina, Universidade de Santiago de Compostela, Spain; PRICAI-Fundación Favaloro, Buenos Aires, Argentina.
⁶⁸ Forensic Genetics Laboratory, Department of Human Morphology and Biomedical Sciences, Università degli Studi di Milano, Italy.
⁶⁹ Interdisciplinary Department of Medicine, Section of Legal Medicine, University of Bari, Italy.
⁷⁰ Department of Medical Genetics, Warsaw Medical University, Poland.
⁷¹ Department of Forensic Medicine, Warsaw Medical University, Poland.
⁷² Department of Public Health Sciences and Pediatrics, University of Turin, Italy.
⁷³ Institute of Applied Genetics and Department of Molecular and Medical Genetics, Ft. Worth, USA; Department of Forensic Medicine, University of Helsinki, Finland.
⁷⁴ Department of Forensic Medicine, University of Helsinki, Finland.
⁷⁵ DNA Analysis Laboratory, Natural Sciences Research Institute, University of the Philippines Diliman, Philippines.
⁷⁶ DNA Analysis Laboratory, Natural Sciences Research Institute, University of the Philippines Diliman, Philippines; Institute of Biological Sciences, University of the Philippines Los Baños, Laguna, Philippines.
⁷⁷ Institut für Rechtsmedizin, Universitätsklinikum Freiburg, Germany.
⁷⁸ Department of Forensic Medicine, University of Turku, Finland.
⁷⁹ Institute of Legal Medicine, Faculty of Medicine, University of Cologne, Germany.
⁸⁰ Department of Forensic Medicine, Yonsei University College of Medicine, Seoul, South Korea.
⁸¹ Athens Dept. of Legal Medicine, DNA Analysis Laboratory, Athens, Greece.
⁸² Department of Basic Medical Sciences, University of the West Indies, Kingston, Jamaica.
⁸³ Laboratorio Genetix S.A., Panamá, Panama.
⁸⁴ Laboratory of Forensic Genetics, Institute of Criminalistics, Prague, Czech Republic.
⁸⁵ Department of Forensic Genetics and Forensic Toxicology, National Board of Forensic Medicine, Linköping, Sweden.
⁸⁶ Sezione di Medicina Legale, Dipartimento di Medicina e Sanità Pubblica, Università degli Studi di Verona, Italy.
⁸⁷ Istituto di Medicina Legale, Universitá degli Studi di Brescia, Italy.
⁸⁸ Department of Genetics, University of Leicester, UK.
⁸⁹ Genomic Engenharia Molecular Ltda., Sao Paulo, Brazil.
⁹⁰ Institute of Forensic Research, Krakow, Poland.
⁹¹ Defence Medical & Environmental Research Institute, DSO National Laboratories, Singapore.
⁹² Institute of Medical Informatics and Statistics, Christian-Albrechts University Kiel, Germany.
⁹³ Department of Forensic Genetics, Institute of Legal Medicine and Forensic Sciences, Charité-Universitätsmedizin, Berlin, Germany. Electronic address: lutz.roewer@charite.de.

PMID: 24854874
PMCID: PMC4127773
DOI: 10.1016/j.fsigen.2014.04.008

A global analysis of Y-chromosomal haplotype diversity for 23 STR loci

Josephine Purps et al. Forensic Sci Int Genet. 2014 Sep.

. 2014 Sep;12(100):12-23.

doi: 10.1016/j.fsigen.2014.04.008. Epub 2014 Apr 28.

Authors

Affiliations

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 Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal; 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 Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria; Penn State Eberly College of Science, University Park, PA, USA.
¹⁶ Institute of Applied Genetics and Department of Molecular and Medical Genetics, Ft. Worth, USA.
¹⁷ Institute of Applied Genetics and Department of Molecular and Medical Genetics, Ft. Worth, USA; Center of Excellence in Genomic Medicine Research (CEGMR), King Abdulaziz University, Jeddah, Saudi Arabia.
¹⁸ Forensische Genetik, Kantonsspital Aarau AG, Switzerland.
¹⁹ Laboratorio de Diagnósticos por DNA, Instituto de Biologia, Universidade do Estado do Rio de Janeiro, Brazil.
²⁰ Human DNA Diagnostics Laboratory, Beirut, Lebanon.
²¹ National Institute of Standards and Technology, Gaithersburg, USA.
²² 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.
²³ University of the Western Cape, Biotechnology Department, Forensic DNA Laboratory, Cape Town, South Africa.
²⁴ KU Leuven, Department of Imaging & Pathology, Laboratory of Forensic Genetics and Molecular Archaeology, Leuven, Belgium.
²⁵ Centre of Molecular Antropology For Ancient DNA Studies, Department of Biology, University of Rome Tor Vergata, Italy.
²⁶ Collaborative Innovation Center of Judicial Civilization, Institute of Evidence Law and Forensic Science, China University of Political Science and Law, Beijing, China.
²⁷ Institute of Forensic Medicine, Medical University, Wroclaw, Poland.
²⁸ Illinois State Police, Research & Development Laboratory, Springfield, USA.
²⁹ Department of Forensic Medicine and Criminology, University of Zagreb, Croatia.
³⁰ University Center of Legal Medicine, Lausanne-Geneva, Lausanne, Switzerland.
³¹ Forensic Science Centre "Ivan Vucetic", General Police Directorate, Ministry of Interior, Zagreb, Croatia.
³² Institut für Rechtsmedizin, Universität Zürich, Switzerland.
³³ National Forensic Laboratory, Ljubljana, Slovenia.
³⁴ Department of Legal Medicine, Faculty of Medicine, University of Tsukuba, Japan.
³⁵ Institute of Forensic Medicine, West China School of Basic Science and Forensic Medicine Sichuan University, Chengdu, China.
³⁶ Molecular Biology and Forensic Genetics Laboratory, Shantou University Medical College, Shantou, China.
³⁷ Institut für Rechtsmedizin, Universität Halle, Germany.
³⁸ Institute for Forensic Medicine and Criminalistics, Medical Faculty, University "Ss. Cyril and Methodius", Skopje, Macedonia.
³⁹ Institut für Rechtsmedizin, Universitätsmedizin Greifswald, Germany.
⁴⁰ Forensic Laboratory for DNA Research, Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
⁴¹ Subdivision of Biological and Biochemical Examinations and Analyses F.S.D. - Hellenic Police, Athens, Greece.
⁴² Institute for Genetic Engineering and Biotechnology, Sarajevo, Bosnia and Herzegovina.
⁴³ Institut für Rechtsmedizin, Universität Rostock, Germany.
⁴⁴ Molecular Biology Laboratory, American University of Science and Technology Beirut, Lebanon and School of Criminal Justice, University of Lausanne, Switzerland.
⁴⁵ Laboratorio de Análisis de ADN, FCM - National University of Cuyo, Mendoza, Argentina.
⁴⁶ Instituto Nacional de Toxicología y Ciencias Forenses, Madrid, Spain.
⁴⁷ Departamento de Biologia, Universidade de Aveiro, Portugal.
⁴⁸ National Research Institute of Police Science, Chiba, Japan.
⁴⁹ Instituto de Biologia, Universidade Federal do Rio de Janeiro and DIMAV/INMETRO, Brazil.
⁵⁰ Instituto de Biologia do Exército, Rio de Janeiro, Brazil.
⁵¹ Instituto de Biofísica Carlos Chagas Filho, Universidade Federal do Rio de Janeiro, Brazil.
⁵² Institut für Rechtsmedizin, Universität Leipzig, Germany.
⁵³ School of Forensic Medicine, Kunming Medical University, Kunming, China.
⁵⁴ Department of Criminal Investigation, Xuanwei Public Security Bureau, Xuanwei, China.
⁵⁵ Department of Criminal Investigation, Yunnan Provincial Public Security Bureau, Kunming, China.
⁵⁶ BIOMICs Research Group, Universidad del País Vasco, Vitoria, Spain.
⁵⁷ Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark.
⁵⁸ Section of Legal Medicine, Università Politecnica delle Marche, Ancona, Italy.
⁵⁹ DNA Laboratory, Institute for Forensic Medicine, Network of Forensic Science Institutes, Ministry of Public Administration and Justice, Budapest, Hungary.
⁶⁰ Forensic Genetics Laboratory, Institute of Forensic Medicine, Medical University of Gdansk, Poland.
⁶¹ Department of Medical and Surgical Sciences (DIMEC), Institute of Legal Medicine, School of Medicine, University of Bologna, Italy.
⁶² Department of Forensic Medicine, Medical University of Bialystok, Poland.
⁶³ Department of Forensic Medicine, Medical University Poznan, Poland.
⁶⁴ Unidade de Xenética Forense, Instituto de Ciencias Forenses, Grupo de Medicina Xenómica, Facultade de Medicina, Universidade de Santiago de Compostela, Spain.
⁶⁵ Unidade de Xenética Forense, Instituto de Ciencias Forenses, Grupo de Medicina Xenómica, Facultade de Medicina, Universidade de Santiago de Compostela, Spain; Forensic Genetics Laboratory, Institute of Legal Medicine, Università Cattolica del Sacro Cuore, Rome, Italy.
⁶⁶ Unidade de Xenética Forense, Instituto de Ciencias Forenses, Grupo de Medicina Xenómica, Facultade de Medicina, Universidade de Santiago de Compostela, Spain; Department of Zoology, University of Oxford, Oxford, UK.
⁶⁷ Unidade de Xenética Forense, Instituto de Ciencias Forenses, Grupo de Medicina Xenómica, Facultade de Medicina, Universidade de Santiago de Compostela, Spain; PRICAI-Fundación Favaloro, Buenos Aires, Argentina.
⁶⁸ Forensic Genetics Laboratory, Department of Human Morphology and Biomedical Sciences, Università degli Studi di Milano, Italy.
⁶⁹ Interdisciplinary Department of Medicine, Section of Legal Medicine, University of Bari, Italy.
⁷⁰ Department of Medical Genetics, Warsaw Medical University, Poland.
⁷¹ Department of Forensic Medicine, Warsaw Medical University, Poland.
⁷² Department of Public Health Sciences and Pediatrics, University of Turin, Italy.
⁷³ Institute of Applied Genetics and Department of Molecular and Medical Genetics, Ft. Worth, USA; Department of Forensic Medicine, University of Helsinki, Finland.
⁷⁴ Department of Forensic Medicine, University of Helsinki, Finland.
⁷⁵ DNA Analysis Laboratory, Natural Sciences Research Institute, University of the Philippines Diliman, Philippines.
⁷⁶ DNA Analysis Laboratory, Natural Sciences Research Institute, University of the Philippines Diliman, Philippines; Institute of Biological Sciences, University of the Philippines Los Baños, Laguna, Philippines.
⁷⁷ Institut für Rechtsmedizin, Universitätsklinikum Freiburg, Germany.
⁷⁸ Department of Forensic Medicine, University of Turku, Finland.
⁷⁹ Institute of Legal Medicine, Faculty of Medicine, University of Cologne, Germany.
⁸⁰ Department of Forensic Medicine, Yonsei University College of Medicine, Seoul, South Korea.
⁸¹ Athens Dept. of Legal Medicine, DNA Analysis Laboratory, Athens, Greece.
⁸² Department of Basic Medical Sciences, University of the West Indies, Kingston, Jamaica.
⁸³ Laboratorio Genetix S.A., Panamá, Panama.
⁸⁴ Laboratory of Forensic Genetics, Institute of Criminalistics, Prague, Czech Republic.
⁸⁵ Department of Forensic Genetics and Forensic Toxicology, National Board of Forensic Medicine, Linköping, Sweden.
⁸⁶ Sezione di Medicina Legale, Dipartimento di Medicina e Sanità Pubblica, Università degli Studi di Verona, Italy.
⁸⁷ Istituto di Medicina Legale, Universitá degli Studi di Brescia, Italy.
⁸⁸ Department of Genetics, University of Leicester, UK.
⁸⁹ Genomic Engenharia Molecular Ltda., Sao Paulo, Brazil.
⁹⁰ Institute of Forensic Research, Krakow, Poland.
⁹¹ Defence Medical & Environmental Research Institute, DSO National Laboratories, Singapore.
⁹² Institute of Medical Informatics and Statistics, Christian-Albrechts University Kiel, Germany.
⁹³ Department of Forensic Genetics, Institute of Legal Medicine and Forensic Sciences, Charité-Universitätsmedizin, Berlin, Germany. Electronic address: lutz.roewer@charite.de.

PMID: 24854874
PMCID: PMC4127773
DOI: 10.1016/j.fsigen.2014.04.008

Abstract

In a worldwide collaborative effort, 19,630 Y-chromosomes were sampled from 129 different populations in 51 countries. These chromosomes were typed for 23 short-tandem repeat (STR) loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385ab, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, GATAH4, DYS481, DYS533, DYS549, DYS570, DYS576, and DYS643) and using the PowerPlex Y23 System (PPY23, Promega Corporation, Madison, WI). Locus-specific allelic spectra of these markers were determined and a consistently high level of allelic diversity was observed. A considerable number of null, duplicate and off-ladder alleles were revealed. Standard single-locus and haplotype-based parameters were calculated and compared between subsets of Y-STR markers established for forensic casework. The PPY23 marker set provides substantially stronger discriminatory power than other available kits but at the same time reveals the same general patterns of population structure as other marker sets. A strong correlation was observed between the number of Y-STRs included in a marker set and some of the forensic parameters under study. Interestingly a weak but consistent trend toward smaller genetic distances resulting from larger numbers of markers became apparent.

Keywords: AMOVA; Database; Discriminatory power; Gene diversity; Population structure.

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Figures

**Fig. 1**
Geographic distribution of sampling sites. Male samples (n = 19,630) were collected at 129 sites on five continents.

**Fig. 2**
Allele distribution of PPY23-specific loci.

**Fig. 3**
Ranking of PPY23 markers by gene diversity (GD). For the calculation of GD, DYS385ab was treated as a single marker. DYS389II.I equals the difference between DYS389II and DYS389I. PPY23-specific markers are given in bold. (a) Rank within the whole data set; (b) rank within continental residency groups, i.e. Africa (orange; n = 445), Asia (red; n = 3458), Europe (magenta; n = 11,968), Latin America (blue; n = 1183) or North America (green; n = 2576). (For interpretation of the references to color in this figure legend, the reader is referred to the web version of this article.)

**Fig. 4**
Marker-wise frequency of variant alleles. PPY23-specific markers are given in bold. Light gray: copy number variants; gray: intermediate alleles; dark gray: null allele.

**Fig. 5**
Genetic distances between populations. Pairwise R_ST values for PPY23 were calculated between all 129 populations and grouped by continental residency.

**Fig. 6**
Population structure revealed by PPY23. Interpolated maps depict the first MDS components of pairwise R_ST values for PPY23. (a) Two-dimensional MDS analysis for the whole data set (129 populations); (b) four-dimensional MDS analysis for populations of European residency and ancestry alone (68 populations). Sample locations are marked in white. Color coding is on an arbitrary rainbow scale that assigns yellow and magenta to the opposite ends of the scale.

See this image and copyright information in PMC

References

1. Roewer L., Arnemann J., Spurr N.K., Grzeschik K.H., Epplen J.T. Simple repeat sequences on the human Y chromosome are equally polymorphic as their autosomal counterparts. Hum. Genet. 1992;89:389–394. - PubMed
1. Mathias N., Bayes M., Tyler-Smith C. Highly informative compound haplotypes for the human Y chromosome. Hum. Mol. Genet. 1994;3:115–123. - PubMed
1. Roewer L., Kayser M., Dieltjes P., Nagy M., Bakker E. Analysis of molecular variance (AMOVA) of Y-chromosome-specific microsatellites in two closely related human populations. Hum. Mol. Genet. 1996;5:1029–1033. - PubMed
1. Kayser M., Caglia A., Corach D., Fretwell N., Gehrig C. Evaluation of Y-chromosomal STRs: a multicenter study. Int. J. Legal Med. 1997;110:125–133. 141-129. - PubMed
1. Skaletsky H., Kuroda-Kawaguchi T., Minx P.J., Cordum H.S., Hillier L. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature. 2003;423:825–837. - PubMed

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A global analysis of Y-chromosomal haplotype diversity for 23 STR loci

Affiliations

A global analysis of Y-chromosomal haplotype diversity for 23 STR loci

Authors

Affiliations

Abstract

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References

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MeSH terms

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