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1. Results of a collaborative study on DNA identification of aged bone samples

Author

Judith Zander, Marie Allen, Joanna Vella, Petra Lotz, Ruth Galdies, Alain Stevanovitch, Olivier Cepil, Marion Nagy, Daniel Vanek, Wafa Ali Rashid Al Tayyari, Dina Al Salafi, Hicham El Ossmani, Mishel Stephenson, Jindrich Novotny, Jan Cemper-Kiesslich, Jan Frolík, Jitka Dubska-Votrubova, Greet De Cock, Michel Bottinelli, Francois Guidet, Marguerethe Stenersen, Juliane Strien, Wendy Arguetaa, Magdalena M. Bus, Angie Ambers, Anna Hoefges, Cristian Bogdan Iancu, D.R. Sumita, Ahmed Anwar Al Afeefi, Alessandro Maresca, Hajar Rachid, Jessica Rothe, Bruce Budowle, Martin Pospíšek, Stijn Desmyter, Hamid El Amri, Khudooma Saeed Al Naimi, Khalid Ismaeil Al Hosani, and Sebastian Grün

Subjects
Forensic Genetics, 0301 basic medicine, medicine.medical_specialty, Forensic Science, Bone and Bones, 03 medical and health sciences, Forensic dna, 0302 clinical medicine, medicine, Humans, 030216 legal & forensic medicine, Czech Republic, business.industry, National museum, Medical jurisprudence, DNA, General Medicine, DNA Fingerprinting, Dna identification, 030104 developmental biology, Multicenter study, DNA profiling, Family medicine, Test performance, Degraded dna, business
Abstract

Aim A collaborative exercise with several institutes was organized by the Forensic DNA Service (FDNAS) and the Institute of the Legal Medicine, 2nd Faculty of Medicine, Charles University in Prague, Czech Republic, with the aim to test performance of different laboratories carrying out DNA analysis of relatively old bone samples. Methods Eighteen laboratories participating in the collaborative exercise were asked to perform DNA typing of two samples of bone powder. Two bone samples provided by the National Museum and the Institute of Archaelogy in Prague, Czech Republic, came from archeological excavations and were estimated to be approximately 150 and 400 years old. The methods of genetic characterization including autosomal, gonosomal, and mitochondrial markers was selected solely at the discretion of the participating laboratory. Results Although the participating laboratories used different extraction and amplification strategies, concordant results were obtained from the relatively intact 150 years old bone sample. Typing was more problematic with the analysis of the 400 years old bone sample due to poorer quality. Conclusion The laboratories performing identification DNA analysis of bone and teeth samples should regularly test their ability to correctly perform DNA-based identification on bone samples containing degraded DNA and potential inhibitors and demonstrate that risk of contamination is minimized.

Published
2017

2. The GHEP–EMPOP collaboration on mtDNA population data—A new resource for forensic casework

Author

Ana Goios, Greiciane Gaburro Paneto, Cíntia Alves, D.R. Sumita, M.J. Anjos, M.M. de Pancorbo, Regina Maria Barretto Cicarelli, M. Montesino, A. Alonso, M.F. Pinheiro, Bettina Zimmermann, Martin R. Whittle, Sergio Cardoso, Lourdes Prieto, Gabriela Lima, Cintia Fridman, Walther Parson, Ana Mafalda Rocha, Mónica Carvalho, Cristina Albarrán, A Rodrı́guez-Monge, Innsbruck Med Univ, Univ Inst Res Forens Sci IUICP, Univ Porto IPATIMUP, Universidade Estadual Paulista (Unesp), Natl Inst Toxicol & Forens Sci INTCF, Universidade de São Paulo (USP), Univ Basque Country, Natl Inst Legal Med, and Genom Engn Mol

Subjects
Societies, Scientific, Mitochondrial DNA, Internationality, Latin Americans, Molecular Sequence Data, Biology, DNA, Mitochondrial, Article, Pathology and Forensic Medicine, 03 medical and health sciences, GHEP-ISFG, 0302 clinical medicine, Documentation, Genetics, Humans, 030216 legal & forensic medicine, Cooperative Behavior, 030304 developmental biology, 0303 health sciences, mtDNA, Haplotype, Sequence Analysis, DNA, Population analyses, Genealogy, language.human_language, Forensic science, Genetics, Population, Haplotypes, South american, Population data, language, Portuguese, Databases, Nucleic Acid, EMPOP
Abstract

Made available in DSpace on 2013-09-27T14:53:31Z (GMT). No. of bitstreams: 1 WOS000288248400016.pdf: 119361 bytes, checksum: 9af8c0ce8fdb208234453f9523e8aa1b (MD5) Previous issue date: 2011-03-01 Made available in DSpace on 2013-09-30T19:24:06Z (GMT). No. of bitstreams: 1 WOS000288248400016.pdf: 119361 bytes, checksum: 9af8c0ce8fdb208234453f9523e8aa1b (MD5) Previous issue date: 2011-03-01 Submitted by Vitor Silverio Rodrigues (vitorsrodrigues@reitoria.unesp.br) on 2014-05-20T15:34:26Z No. of bitstreams: 1 WOS000288248400016.pdf: 119361 bytes, checksum: 9af8c0ce8fdb208234453f9523e8aa1b (MD5) Made available in DSpace on 2014-05-20T15:34:26Z (GMT). No. of bitstreams: 1 WOS000288248400016.pdf: 119361 bytes, checksum: 9af8c0ce8fdb208234453f9523e8aa1b (MD5) Previous issue date: 2011-03-01 Mitochondrial DNA (mtDNA) population data for forensic purposes are still scarce for some populations, which may limit the evaluation of forensic evidence especially when the rarity of a haplotype needs to be determined in a database search. In order to improve the collection of mtDNA lineages from the Iberian and South American subcontinents, we here report the results of a collaborative study involving nine laboratories from the Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) and EMPOP. The individual laboratories contributed population data that were generated throughout the past 10 years, but in the majority of cases have not been made available to the scientific community. A total of 1019 haplotypes from Iberia (Basque Country, 2 general Spanish populations, 2 North and 1 Central Portugal populations), and Latin America (3 populations from São Paulo) were collected, reviewed and harmonized according to defined EMPOP criteria. The majority of data ambiguities that were found during the reviewing process (41 in total) were transcription errors confirming that the documentation process is still the most error-prone stage in reporting mtDNA population data, especially when performed manually. This GHEP-EMPOP collaboration has significantly improved the quality of the individual mtDNA datasets and adds mtDNA population data as valuable resource to the EMPOP database (www.empop.org). (C) 2010 Elsevier B.V. All rights reserved. Innsbruck Med Univ, Inst Legal Med, Innsbruck, Austria Univ Inst Res Forens Sci IUICP, Madrid, Spain Univ Porto IPATIMUP, Inst Mol Pathol & Immunol, Oporto, Portugal Univ Estadual Paulista, UNESP, Lab Patern, São Paulo, Brazil Natl Inst Toxicol & Forens Sci INTCF, Madrid, Spain Univ São Paulo, Sch Med, Dept Legal Med Bioeth & Occupat Hlth, BR-05508 São Paulo, Brazil Univ Basque Country, BIOMICs Res Grp, Ctr Invest & Estudios Avanzados Lucio Lascaray, Vitoria, Spain Natl Inst Legal Med, N Branch, Oporto, Portugal Natl Inst Legal Med, Ctr Branch, Coimbra, Portugal Genom Engn Mol, São Paulo, Brazil Univ Estadual Paulista, UNESP, Lab Patern, São Paulo, Brazil

Published
2011
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3. A global analysis of Y-chromosomal haplotype diversity for 23 STR loci

Author

Thomas Capal, Marian M. de Pancorbo, Birgit Bayer, Sheila M.T. Angustia, Francesca Brisighelli, Andrea Piccinini, Lutz Roewer, Yali Xue, Aikaterini Kondili, Alexandra Ampati, Katja Anslinger, Mouayyad Al-Azem, Witold Pepinski, Harald Niederstätter, Jae Joseph Russell B. Rodriguez, Katja Drobnič, Denise Syndercombe Court, Jana Wobst, David Ballard, Danel Rey-González, Marina Nastainczyk-Wulf, Christopher Phillips, Magdalena Konarzewska, Evelyn K. Guevara, Jill K. Olofsson, Maria Eugenia D’Amato, Natsuko Mizuno, Ansar El Andari, Yiping Hou, G.M. Luque, Carolyn R. Hill, Antti Sajantila, Cordula Haas, Tobi Gail Smith, Christian Gehrig, Andreas O. Tillmar, Marilidia Piglionica, Anja E. Klann, M. Sirker, Jazelyn M. Salvador, Jukka U. Palo, Rita Y.Y. Yong, Antonio Alonso, Xinia Barrantes, Bruce Budowle, Helen Burri, Xianping Wang, Baowen Cheng, Paulina Wolańska-Nowak, Peter de Knijff, Renato Salazar, Thirsa Kraaijenbrink, Shenglan Chen, Susi Pelotti, Tatiana Lúcia Santos Nogueira, Mark A. Jobling, Iulia Skitsa, Issam Mansour, Jeanett Edelmann, Urs V. Borer, Stefania Lonero Baldassarra, Maria Corazon A. De Ungria, Di Zhou, William E. Frank, Jon H. Wetton, Begoña Martínez-Jarreta, Sheng-Ping Hu, Marion Nagy, Andrea Verzeletti, Rodrigo Soares de Moura Neto, Martin R. Whittle, Anna Jonkisz, Ryszard Pawłowski, Cristian Capelli, Yu Na Oh, Emila Jastrzebska, Helena Nilsson, Agnieszka Maciejewska, M. Kohl, Cristina Cano García, Miguel Marino, Michael D. Coble, Elizeu Fagundes de Carvalho, Gareth M. Gwynne, Michael Nothnagel, Chengtao Jiang, Tadeusz Dobosz, Gavrilo Hadzic, Burkhard Berger, Sascha Willuweit, Branka Grskovic, Katsuya Honda, Tanja Ilievska, Rüdiger Lessig, Zlatko Jakovski, Antonio Salas, Balázs Egyed, Laura Locarno, Christoph Koller, Helena Moreira, Sibylle Tschumi, Carolina Núñez, Luís Souto Miranda, Nicola Schlauderer, Patrícia Domingues, Yasuki Iwashima, Di Lu, V. Cortellini, Antónia Völgyi, Monica Abreu-Głowacka, Mariela Caputo, Maarten Larmuseau, Peter M. Schneider, Wafaa Takash Chamoun, Gerhard Bäßler, Pekka Saukko, Cíntia Alves, Lejla Kovacevic, Maria Vouropoulou, Walther Parson, Stefania Turrina, Chris Tyler-Smith, Lina Solis De Calvit, D.R. Sumita, Qasim Ayub, T. Wiest, Iris Lindner, Jorge Cárdenas, Kyoung Jin Shin, Daniel Corach, Claudio Ottoni, Carlo Robino, Sabine Siegert, Ivana Furač, Miriam Baeta Bafalluy, Uta Dorothee Immel, Domenico De Leo, Ronny Decorte, Sandra Furfuro, Niels Morling, Valerio Onofri, Adriano Tagliabracci, Rosane Silva, Beate Balitzki, Ulises Toscanini, Olga Rickards, Michael Krawczak, Sean Davison, Ulrike Schmidt, Wei Wei, Pablo Martín, Vincent Castella, Yan Li, P. Miniati, Rafał Płoski, Gusztáv Bárány, Vlastimil Stenzl, Shengjie Nie, Horolma Pamjav, Carey Davis, Josephine Purps, Lorna H. Santos, Damir Marjanović, Hjelt Institute (-2014), Forensic Medicine, PaleOmics Laboratory, Purps, Josephine, Siegert, Sabine, Willuweit, Sascha, Nagy, Marion, Alves, Cíntia, Salazar, Renato, Angustia, Sheila M.T., Santos, Lorna H., Anslinger, Katja, Bayer, Birgit, Ayub, Qasim, Wei, Wei, Xue, Yali, Tyler-Smith, Chri, Bafalluy, Miriam Baeta, Martínez-Jarreta, Begoña, Egyed, Balaz, Balitzki, Beate, Tschumi, Sibylle, Ballard, David, Court, Denise Syndercombe, Barrantes, Xinia, Bäßler, Gerhard, Wiest, Tina, Berger, Burkhard, Niederstätter, Harald, Parson, Walther, Davis, Carey, Budowle, Bruce, Burri, Helen, Borer, Ur, Koller, Christoph, Carvalho, Elizeu F., Domingues, Patricia M., Chamoun, Wafaa Takash, Coble, Michael D., Hill, Carolyn R., Corach, Daniel, Caputo, Mariela, D'Amato, Maria E., Davison, Sean, Decorte, Ronny, Larmuseau, Maarten H.D., Ottoni, Claudio, Rickards, Olga, Lu, Di, Jiang, Chengtao, Dobosz, Tadeusz, Jonkisz, Anna, Frank, William E., Furac, Ivana, Gehrig, Christian, Castella, Vincent, Grskovic, Branka, Haas, Cordula, Wobst, Jana, Hadzic, Gavrilo, Drobnic, Katja, Honda, Katsuya, Hou, Yiping, Zhou, Di, Li, Yan, Hu, Shengping, Chen, Shenglan, Immel, Uta-Dorothee, Lessig, Rüdiger, Jakovski, Zlatko, Ilievska, Tanja, Klann, Anja E., García, Cristina Cano, De Knijff, Peter, Kraaijenbrink, Thirsa, Kondili, Aikaterini, Miniati, Penelope, Vouropoulou, Maria, Kovacevic, Lejla, Marjanovic, Damir, Lindner, Iri, Mansour, Issam, Al-Azem, Mouayyad, Andari, Ansar El, Marino, Miguel, Furfuro, Sandra, Locarno, Laura, Martín, Pablo, Luque, Gracia M., Alonso, Antonio, Miranda, Luís Souto, Moreira, Helena, Mizuno, Natsuko, Iwashima, Yasuki, Neto, Rodrigo S. Moura, Nogueira, Tatiana L.S., Silva, Rosane, Nastainczyk-Wulf, Marina, Edelmann, Jeanett, Kohl, Michael, Nie, Shengjie, Wang, Xianping, Cheng, Baowen, Núñez, Carolina, Pancorbo, Marian Martínez De, Olofsson, Jill K., Morling, Niel, Onofri, Valerio, Tagliabracci, Adriano, Pamjav, Horolma, Volgyi, Antonia, Barany, Gusztav, Pawlowski, Ryszard, Maciejewska, Agnieszka, Pelotti, Susi, Pepinski, Witold, Abreu-Glowacka, Monica, Phillips, Christopher, Cárdenas, Jorge, Rey-Gonzalez, Danel, Salas, Antonio, Brisighelli, Francesca, Capelli, Cristian, Toscanini, Ulise, Piccinini, Andrea, Piglionica, Marilidia, Baldassarra, Stefania L., Ploski, Rafal, Konarzewska, Magdalena, Jastrzebska, Emila, Robino, Carlo, Sajantila, Antti, Palo, Jukka U., Guevara, Evelyn, Salvador, Jazelyn, Ungria, Maria Corazon De, Rodriguez, Jae Joseph Russell, Schmidt, Ulrike, Schlauderer, Nicola, Saukko, Pekka, Schneider, Peter M., Sirker, Miriam, Shin, Kyoung-Jin, Oh, Yu Na, Skitsa, Iulia, Ampati, Alexandra, Smith, Tobi-Gail, Calvit, Lina Solis De, Stenzl, Vlastimil, Capal, Thoma, Tillmar, Andrea, Nilsson, Helena, Turrina, Stefania, De Leo, Domenico, Verzeletti, Andrea, Cortellini, Venusia, Wetton, Jon H., Gwynne, Gareth M., Jobling, Mark A., Whittle, Martin R., Sumita, Denilce R., Wolańska-Nowak, Paulina, Yong, Rita Y.Y., Krawczak, Michael, Nothnagel, Michael, and Roewer, Lutz

Subjects
Forensic Genetics, Population structure, RECOMBINATION, Forensic Genetic, purl.org/becyt/ford/1 [https], AMOVA, Database, Discriminatory power, Gene diversity, Population structure, Genética y Herencia, 0302 clinical medicine, MARKERS, Haplotype, POPULATION, Allele, Genetics, 0303 health sciences, education.field_of_study, Medicine (all), Gene diversity, 319 Forensic science and other medical sciences, 16. Peace & justice, Gene diversity, Discriminatory power, AMOVA, Population structure, Database, Str loci, Microsatellite Repeat, AMOVA, Database, Discriminatory power, Gene diversity, Population structure, Genetics, Forensic Medicine, ALLELE FREQUENCIES, Discriminatory power, CIENCIAS NATURALES Y EXACTAS, Human, AMOVA, Population, Settore BIO/08 - ANTROPOLOGIA, Biology, Settore BIO/08, SEQUENCE, Article, Pathology and Forensic Medicine, EVENTS, Ciencias Biológicas, Database, 03 medical and health sciences, Genetic, Settore MED/43 - Medicina Legale, Humans, 030216 legal & forensic medicine, education, purl.org/becyt/ford/1.6 [https], Allele frequency, Alleles, 030304 developmental biology, Chromosomes, Human, Y, ta1184, DELETION, Null (mathematics), AZFA REGION, ta3121, Haplotypes, 3111 Biomedicine, SYSTEM, Microsatellite Repeats
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. Fil: Corach, Daniel. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Caputo, Mariela. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Marino, Miguel Eduardo. Universidad Nacional de Cuyo. Facultad de Ciencias Médicas. Laboratorio de Analisis de ADN; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Purps, Josephine. Charité-Universitätsmedizin; Alemania Fil: Siegert, Sabine. University of Cologne; Alemania Fil: Willuweit, Sascha. Charité-Universitätsmedizin; Alemania Fil: Nagy, Marion. Charité-Universitätsmedizin; Alemania Fil: Alves, Cíntia. Universidad de Porto; Portugal Fil: Salazar, Renato. Universidad de Porto; Portugal Fil: Angustia, Sheila M. T.. Philippine National Police Crime Laboratory; Filipinas Fil: Santos, Lorna H.. Philippine National Police Crime Laboratory; Filipinas Fil: Anslinger, Katja. Universitat Genzentrum Der Ludwing-maximilians; Alemania Fil: Bayer, Birgit. Universitat Genzentrum Der Ludwing-maximilians; Alemania Fil: Ayub, Qasim. The Wellcome Trust Sanger Institute; Reino Unido Fil: Wei, Wei. The Wellcome Trust Sanger Institute; Reino Unido Fil: Xue, Yali. The Wellcome Trust Sanger Institute; Reino Unido Fil: Tyler Smith, Chris. The Wellcome Trust Sanger Institute; Reino Unido Fil: Baeta Bafalluy, Miriam. Universidad de Zaragoza; España Fil: Martínez Jarreta, Begoña. Universidad de Zaragoza; España Fil: Egyed, Balazs. Eotvos University, Budapest; Argentina Fil: Balitzki, Beate. Universidad de Basilea; Suiza Fil: Tschumi, Sibylle. Universidad de Basilea; Suiza Fil: Ballard, David. King; Reino Unido Fil: Syndercombe Court, Denise. King; Reino Unido Fil: Barrantes, Xinia. Poder Judicial, Forensic Sciences Department; Costa Rica Fil: Bäßler, Gerhard. Landeskriminalamt Baden-Württemberg; Alemania Fil: Berger, Burkhard. Universidad de Innsbruck; Austria Fil: Niederstätter, Haral. Universidad de Innsbruck; Austria Fil: Parson, Walther. Universidad de Innsbruck; Austria. University Park; Estados Unidos Fil: Davis, Carey. Department of Molecular and Medical Genetics; Estados Unidos. Institute of Applied Genetics; Estados Unidos Fil: Furfuro, Sandra. Universidad Nacional de Cuyo. Facultad de Ciencias Médicas. Laboratorio de Análisis de ADN; Argentina Fil: Locarno, Laura. Universidad Nacional de Cuyo. Facultad de Ciencias Médicas. Laboratorio de Análisis de ADN; Argentina

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