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Forensic Sci Int Genet. 2014 Sep;12:12-23. doi: 10.1016/j.fsigen.2014.04.008. Epub 2014 Apr 28.

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

Purps J1, Siegert S2, Willuweit S1, Nagy M1, Alves C3, Salazar R4, Angustia SM5, Santos LH5, Anslinger K6, Bayer B6, Ayub Q7, Wei W7, Xue Y7, Tyler-Smith C7, Bafalluy MB8, Martínez-Jarreta B8, Egyed B9, Balitzki B10, Tschumi S10, Ballard D11, Court DS11, Barrantes X12, Bäßler G13, Wiest T13, Berger B14, Niederstätter H14, Parson W15, Davis C16, Budowle B17, Burri H18, Borer U18, Koller C18, Carvalho EF19, Domingues PM19, Chamoun WT20, Coble MD21, Hill CR21, Corach D22, Caputo M22, D'Amato ME23, Davison S23, Decorte R24, Larmuseau MH24, Ottoni C24, Rickards O25, Lu D26, Jiang C26, Dobosz T27, Jonkisz A27, Frank WE28, Furac I29, Gehrig C30, Castella V30, Grskovic B31, Haas C32, Wobst J32, Hadzic G33, Drobnic K33, Honda K34, Hou Y35, Zhou D35, Li Y35, Hu S36, Chen S36, Immel UD37, Lessig R37, Jakovski Z38, Ilievska T38, Klann AE39, García CC39, de Knijff P40, Kraaijenbrink T40, Kondili A41, Miniati P41, Vouropoulou M41, Kovacevic L42, Marjanovic D42, Lindner I43, Mansour I44, Al-Azem M44, Andari AE44, Marino M45, Furfuro S45, Locarno L45, Martín P46, Luque GM46, Alonso A46, Miranda LS47, Moreira H47, Mizuno N48, Iwashima Y48, Neto RS49, Nogueira TL50, Silva R51, Nastainczyk-Wulf M52, Edelmann J52, Kohl M52, Nie S53, Wang X54, Cheng B55, Núñez C56, Pancorbo MM56, Olofsson JK57, Morling N57, Onofri V58, Tagliabracci A58, Pamjav H59, Volgyi A59, Barany G59, Pawlowski R60, Maciejewska A60, Pelotti S61, Pepinski W62, Abreu-Glowacka M63, Phillips C64, Cárdenas J64, Rey-Gonzalez D64, Salas A64, Brisighelli F65, Capelli C66, Toscanini U67, Piccinini A68, Piglionica M69, Baldassarra SL69, Ploski R70, Konarzewska M70, Jastrzebska E71, Robino C72, Sajantila A73, Palo JU74, Guevara E74, Salvador J75, Ungria MC75, Rodriguez JJ76, Schmidt U77, Schlauderer N77, Saukko P78, Schneider PM79, Sirker M79, Shin KJ80, Oh YN80, Skitsa I81, Ampati A81, Smith TG82, Calvit LS83, Stenzl V84, Capal T84, Tillmar A85, Nilsson H85, Turrina S86, De Leo D86, Verzeletti A87, Cortellini V87, Wetton JH88, Gwynne GM88, Jobling MA88, Whittle MR89, Sumita DR89, Wolańska-Nowak P90, Yong RY91, Krawczak M92, Nothnagel M2, Roewer L93.

Author information

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.

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

PMID:
24854874
PMCID:
PMC4127773
DOI:
10.1016/j.fsigen.2014.04.008
[Indexed for MEDLINE]
Free PMC Article

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