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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

J. Purps, S. Siegert, S. Willuweit, M. Nagy, C. Alves, R. Salazar, S.M.T. Angustia, L.H. Santos, K. Anslinger, B. Bayer, Q. Ayub, W. Wei, Y. Xue, C. Tyler-Smith, M.B. Bafalluy, B. Mart´inez- Jarreta, B. Egyed, B. Balitzki, S.Tschumi, D. Ballard, D.S. Court, X. Barrantes, G. B¨assler, T. Wiest, B. Berger, H. Niederst¨atter, W. Parson, C. Davis, B. Budowle, H. Burri, U. Borer, C. Koller, E.F. Carvalho, P.M. Domingues, W.T. Chamoun, M.D. Coble, C.R. Hill, D. Corach, M. Caputo, M.E. D’Amato, S. Davison, R. Decorte, M.H.D. Larmuseau, C. Ottoni, O. Rickards, D. Lu, C. Jiang, T. Dobosz, A. Jonkisz, W.E. Frank, I. Furac, C. Gehrig, V. Castella, B. Grskovic, C. Haas, J. Wobst, G. Hadzic, K. Drobnic, K. Honda, Y. Hou, D. Zhou, Y. Li, S. Hu, S. Chen, U.-D. Immel, R. Lessig, Z. Jakovski, T. Ilievska, A.E. Klann, C.C. Garc´ia, P. de Knijff, T. Kraaijenbrink, A. Kondili, P. Miniati, M. Vouropoulou, L. Kovacevic, D. Marjanović, I. Lindner, I. Mansour, M. Al-Azem, A.E. Andari, M. Marino, S. Furfuro, L. Locarno, P. Mart´in, G.M. Luque, A. Alonso, L.S. Miranda, H. Moreira, N. Mizuno, Y. Iwashima, R.S.M. Neto, T.L.S. Nogueira, R. Silva, M. Nastainczyk-Wulf, J. Edelmann, M. Kohl, S. Nie, X. Wang, B. Cheng, C. N ´u˜nez, M.M. Pancorbo, J.K. Olofsson, N. Morling, V. Onofri, A. Tagliabracchi, H. Pamjav, A. Volgyi, G. Barany, R. Pawlowski, A. Maciejewska, S. Pelotti, W. Pepinski, M. Abreu- Glowacka, C. Phillips, J.C´ardenas, D. Rey-Gonzalez, A. Salas, F. Brisighelli, C. Capelli, U. Toscanini, A. Piccinini, M. Piglionica, S.L. Baldassarra, R. Ploski, M. Konarzewska, E. Jastrzebska, C. Robino, A. Sajantila, J.U. Palo, E. Guevara, J. Salvador, M.C.D. Ungria, J.J.R. Rodriguez, U. Schmidt, N. Schlauderer, P. Saukko, P.M. Schneider, M. Sirker, K.-J. Shin, Y.N. Oh, I. Skitsa, A. Ampati, T.-G. Smith, L.S. Calvit, V. Stenzl, T. Capal, A. Tillmar, H. Nilsson, S. Turrina, D. De Leo, A. Verzeletti, V. Cortellini, J.H. Wetton, G.M. Gwynne, M.A. Jobling, M.R. Whittle, D.R. Sumita, P. Wola´nskaNowak, R.Y.Y. Yong, M. Krawczak, M. Nothnagel, L. Roewer

Subjects
Gene diversity, Discriminatory power, AMOVA, Population structure, Database
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.

Published
2014

4. Analysis of mtDNA mixtures from different fluids: An inter-laboratory study

Author

S. Pagano, S. Sóñora, A. Di Lonardo, C. Cruz, M.C. Vide, M. López-Soto, A. Hernández, C.M. López-Cubría, Cristina Albarrán, Lourdes Prieto, R. Espinheira, Antonio Salas, M. Carbalho, Manuel Paredes, Martin R. Whittle, D.R. Sumita, M.J. Farfán, Vanesa Álvarez-Iglesias, J.A. Cano, J. Garcia-Hirchfeld, Daniel Corach, A. Alonso, M.F. Pinheiro, M. Crespillo, Gabriela Lima, A. Zurita, M. Montesino, S. Filippini, and A. Sala

Subjects
Genetics, Saliva, chemistry.chemical_compound, Mitochondrial DNA, chemistry, Haplotype, Semen, General Medicine, Inter-laboratory, Biology, Molecular biology, DNA, Hypervariable region
Abstract

The mitochondrial DNA (mtDNA) working group of the GEP-ISFG carried out an inter-laboratory exercise consisting of the study of mixture stains (saliva/semen and blood/semen) in order to investigate the behaviour of these common forensic samples when analysing their mtDNA using standard sequencing methodology. All labs extracted the DNA by preferential lysis and amplified and sequenced the first hypervariable region I (HVS-I). The results showed high consensus between labs for the first fraction of the lysis but not for the second one. We also observed differences between mixtures prepared from different donors and different body fluids. The present study has important consequences for the analysis and interpretation of mtDNA mixtures. © 2005 Elsevier B.V. All rights reserved.

Published
2006
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6. Analysis of body fluid mixtures by mtDNA sequencing: An inter-laboratory study of the GEP-ISFG working group

Author

C. Cruz, J.A. Cano, Antonio Salas, Marco Antonio Garcia de Carvalho, A Rodrı́guez-Monge, C.M. López-Cubría, M.C. Vide, A. Di Lonardo, D.R. Sumita, S. Sóñora, Cristina Albarrán, Andrea Sala, A. Hernández, M. Montesino, Daniel Corach, A. Alonso, R. Espinheira, M. Crespillo, Lourdes Prieto, M.F. Pinheiro, S. Pagano, S. Filippini, A. Zurita, Gabriela Lima, J. García-Hirschfeld, M.J. Farfán, Vanesa Álvarez-Iglesias, M. López-Soto, Manuel Paredes, and Martin R. Whittle

Subjects
Male, Quality Control, Saliva, Mitochondrial DNA, Serial dilution, Semen, Cell Count, Biology, DNA, Mitochondrial, Polymerase Chain Reaction, Pathology and Forensic Medicine, Vasectomy, Humans, Genetics, Body fluid, Chromosomes, Human, Y, Clinical Laboratory Techniques, Haplotype, Sequence Analysis, DNA, DNA Fingerprinting, Spermatozoa, Hypervariable region, Electropherogram, Blood, Haplotypes, Tandem Repeat Sequences, Female, Law
Abstract

The mitochondrial DNA (mtDNA) working group of the GEP-ISFG (Spanish and Portuguese Group of the International Society for Forensic Genetics) carried out an inter-laboratory exercise consisting of the analysis of mtDNA sequencing patterns in mixed stains (saliva/semen and blood/semen). Mixtures were prepared with saliva or blood from a female donor and three different semen dilutions (pure, 1:10 and 1:20) in order to simulate forensic casework. All labs extracted the DNA by preferential lysis and amplified and sequenced the first mtDNA hypervariable region (HVS-I). Autosomal and Y-STR markers were also analysed in order to compare nuclear and mitochondrial results from the same DNA extracts. A mixed stain prepared using semen from a vasectomized individual was also analysed. The results were reasonably consistent among labs for the first fractions but not for the second ones, for which some laboratories reported contamination problems. In the first fractions, both the female and male haplotypes were generally detected in those samples prepared with undiluted semen. In contrast, most of the mixtures prepared with diluted semen only yielded the female haplotype, suggesting that the mtDNA copy number per cell is smaller in semen than in saliva or blood. Although the detection level of the male component decreased in accordance with the degree of semen dilution, it was found that the loss of signal was not consistently uniform throughout each electropherogram. Moreover, differences between mixtures prepared from different donors and different body fluids were also observed. We conclude that the particular characteristics of each mixed stain can deeply influence the interpretation of the mtDNA evidence in forensic mixtures (leading in some cases to false exclusions). In this sense, the implementation of preliminary tests with the aim of identifying the fluids involved in the mixture is an essential tool. In addition, in order to prevent incorrect conclusions in the interpretation of electropherograms we strongly recommend: (i) the use of additional sequencing primers to confirm the sequencing results and (ii) interpreting the results to the light of the phylogenetic perspective.

Published
2006

7. Mutation rates at Y chromosome specific microsatellites

Author

M.F. Pinheiro, M.J. Farfán, R. Espinheira, Leonor Gusmão, F. Álvarez-Fernández, Angel Carracedo, J. Capilla, G. Vallejo, Javier Riancho, Célia Alves, António Amorim, L. Vidal Rioja, C. Vieira da Silva, C. Castillo, Ma Conceiçao Vide, A. Di Lonardo, D.R. Sumita, H.P. Figueiredo, María T. Zarrabeitia, Cecilia Inés Catanesi, Paula Sánchez-Diz, E. Fagundes de Carvalho, M.L. Pontes, Pablo Martín, William Zabala, W.R. Bozzo, E. Ramos-Luis, Mariano Marino, Victor G. Prieto, Juan José Builes, Concepción Alonso, Martin R. Whittle, Daniel Corach, A. Alonso, Iva Gomes, M Carvalho, A.C. Souza Góes, O.A. Santapá, M.M. Lojo, M.L.J. Bravo, L. Borjas-Fajardo, and Francesc Calafell

Subjects
Genetics, Genetic Markers, Male, Mutation rate, Chromosomes, Human, Y, Base Sequence, DNA Mutational Analysis, Molecular Sequence Data, Age Factors, Biology, Y chromosome, Molecular biology, Gene Frequency, Genetic marker, Mutation (genetic algorithm), Mutation, Microsatellite, Humans, Y-STR, Allele, Allele frequency, Genetics (clinical), Alleles, Microsatellite Repeats
Abstract

A collaborative work was carried out by the Spanish and Portuguese ISFG Working Group (GEP-ISFG) to estimate Y-STR mutation rates. Seventeen Y chromosome STR loci (DYS19, DYS385, DYS389I and II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS460, DYS461, DYS635 [GATA C4], GATA H4, and GATA A10) were analyzed in a sample of 3,026 father/son pairs. Among 27,029 allele transfers, 54 mutations were observed, with an overall mutation rate across the 17 loci of 1.998 x 10(-3) (95% CI, 1.501 x 10(-3) to 2.606 x 10(-3)). With just one exception, all of the mutations were single-step, and they were observed only once per gametogenesis. Repeat gains were more frequent than losses, longer alleles were found to be more mutable, and the mutation rate seemed to increase with the father's age. Hum Mutat 26(6), 520-528, 2005. (c) 2005 Wiley-Liss, Inc.

Published
2005

8. Updated allelic structures of the DXS10135 and DXS10078 STR loci

Author

M.R. Whittle and D.R. Sumita

Subjects
Linkage (software), Genetics, Linkage disequilibrium, Polymorphism (computer science), Str loci, Biology, Allele, Complete linkage, X chromosome, Pathology and Forensic Medicine
Abstract

DXS10135 and DXS10078 are two highly polymorphic STR loci situated in two different linkage groups on the short arm of the human X chromosome. Both loci comprise complex tetrameric repeat units which may partially explain their high degree of polymorphism. DXS10135 is relatively well characterized and is included in a commercially available kit, while DXS10078 has not been well described. We sequenced a large number of alleles of both loci to try and understand the allelic variation and as a prelude to construct allelic ladders from cloned alleles. Our data show interesting features and should encourage other workers to use these loci in forensic genetic investigations.

Published
2009
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9. 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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