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.
| Original language | English |
|---|---|
| Pages (from-to) | 12-23 |
| Number of pages | 12 |
| Journal | Forensic Science International: Genetics |
| Volume | 12 |
| DOIs | |
| State | Published - Sep 2014 |
Keywords
- AMOVA
- Database
- Discriminatory power
- Gene diversity
- Population structure
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A global analysis of Y-chromosomal haplotype diversity for 23 STR loci. / Purps, Josephine; Siegert, Sabine; Willuweit, Sascha et al.
In: Forensic Science International: Genetics, Vol. 12, 09.2014, p. 12-23.Research output: Contribution to journal › Article › peer-review
TY - JOUR
T1 - A global analysis of Y-chromosomal haplotype diversity for 23 STR loci
AU - Purps, Josephine
AU - Siegert, Sabine
AU - Willuweit, Sascha
AU - Nagy, Marion
AU - Alves, Cíntia
AU - Salazar, Renato
AU - Angustia, Sheila M.T.
AU - Santos, Lorna H.
AU - Anslinger, Katja
AU - Bayer, Birgit
AU - Ayub, Qasim
AU - Wei, Wei
AU - Xue, Yali
AU - Tyler-Smith, Chris
AU - Bafalluy, Miriam Baeta
AU - Martínez-Jarreta, Begoña
AU - Egyed, Balazs
AU - Balitzki, Beate
AU - Tschumi, Sibylle
AU - Ballard, David
AU - Court, Denise Syndercombe
AU - Barrantes, Xinia
AU - Bäßler, Gerhard
AU - Wiest, Tina
AU - Berger, Burkhard
AU - Niederstätter, Harald
AU - Parson, Walther
AU - Davis, Carey
AU - Budowle, Bruce
AU - Burri, Helen
AU - Borer, Urs
AU - Koller, Christoph
AU - Carvalho, Elizeu F.
AU - Domingues, Patricia M.
AU - Chamoun, Wafaa Takash
AU - Coble, Michael D.
AU - Hill, Carolyn R.
AU - Corach, Daniel
AU - Caputo, Mariela
AU - D'Amato, Maria E.
AU - Davison, Sean
AU - Decorte, Ronny
AU - Larmuseau, Maarten H.D.
AU - Ottoni, Claudio
AU - Rickards, Olga
AU - Lu, Di
AU - Jiang, Chengtao
AU - Dobosz, Tadeusz
AU - Jonkisz, Anna
AU - Frank, William E.
AU - Furac, Ivana
AU - Gehrig, Christian
AU - Castella, Vincent
AU - Grskovic, Branka
AU - Haas, Cordula
AU - Wobst, Jana
AU - Hadzic, Gavrilo
AU - Drobnic, Katja
AU - Honda, Katsuya
AU - Hou, Yiping
AU - Zhou, Di
AU - Li, Yan
AU - Hu, Shengping
AU - Chen, Shenglan
AU - Immel, Uta Dorothee
AU - Lessig, Rüdiger
AU - Jakovski, Zlatko
AU - Ilievska, Tanja
AU - Klann, Anja E.
AU - García, Cristina Cano
AU - De Knijff, Peter
AU - Kraaijenbrink, Thirsa
AU - Kondili, Aikaterini
AU - Miniati, Penelope
AU - Vouropoulou, Maria
AU - Kovacevic, Lejla
AU - Marjanovic, Damir
AU - Lindner, Iris
AU - Mansour, Issam
AU - Al-Azem, Mouayyad
AU - Andari, Ansar El
AU - Marino, Miguel
AU - Furfuro, Sandra
AU - Locarno, Laura
AU - Martín, Pablo
AU - Luque, Gracia M.
AU - Alonso, Antonio
AU - Miranda, Luís Souto
AU - Moreira, Helena
AU - Mizuno, Natsuko
AU - Iwashima, Yasuki
AU - Neto, Rodrigo S.Moura
AU - Nogueira, Tatiana L.S.
AU - Silva, Rosane
AU - Nastainczyk-Wulf, Marina
AU - Edelmann, Jeanett
AU - Kohl, Michael
AU - Nie, Shengjie
AU - Wang, Xianping
AU - Cheng, Baowen
AU - Núñez, Carolina
AU - Pancorbo, Marian Martínez De
AU - Olofsson, Jill K.
AU - Morling, Niels
AU - Onofri, Valerio
AU - Tagliabracci, Adriano
AU - Pamjav, Horolma
AU - Volgyi, Antonia
AU - Barany, Gusztav
AU - Pawlowski, Ryszard
AU - Maciejewska, Agnieszka
AU - Pelotti, Susi
AU - Pepinski, Witold
AU - Abreu-Glowacka, Monica
AU - Phillips, Christopher
AU - Cárdenas, Jorge
AU - Rey-Gonzalez, Danel
AU - Salas, Antonio
AU - Brisighelli, Francesca
AU - Capelli, Cristian
AU - Toscanini, Ulises
AU - Piccinini, Andrea
AU - Piglionica, Marilidia
AU - Baldassarra, Stefania L.
AU - Ploski, Rafal
AU - Konarzewska, Magdalena
AU - Jastrzebska, Emila
AU - Robino, Carlo
AU - Sajantila, Antti
AU - Palo, Jukka U.
AU - Guevara, Evelyn
AU - Salvador, Jazelyn
AU - Ungria, Maria Corazon De
AU - Rodriguez, Jae Joseph Russell
AU - Schmidt, Ulrike
AU - Schlauderer, Nicola
AU - Saukko, Pekka
AU - Schneider, Peter M.
AU - Sirker, Miriam
AU - Shin, Kyoung Jin
AU - Oh, Yu Na
AU - Skitsa, Iulia
AU - Ampati, Alexandra
AU - Smith, Tobi Gail
AU - Calvit, Lina Solis De
AU - Stenzl, Vlastimil
AU - Capal, Thomas
AU - Tillmar, Andreas
AU - Nilsson, Helena
AU - Turrina, Stefania
AU - De Leo, Domenico
AU - Verzeletti, Andrea
AU - Cortellini, Venusia
AU - Wetton, Jon H.
AU - Gwynne, Gareth M.
AU - Jobling, Mark A.
AU - Whittle, Martin R.
AU - Sumita, Denilce R.
AU - Wolańska-Nowak, Paulina
AU - Yong, Rita Y.Y.
AU - Krawczak, Michael
AU - Nothnagel, Michael
AU - Roewer, Lutz
N1 - Funding Information: B.B., W.P., H.N. were supported by the Austrian Academy of Sciences and Alexandra Lindinger is greatly acknowledged for her technical assistance. A.S. was supported by the Ministerio de Ciencia e Innovación ( SAF2011-26983 ); Plan Galego IDT, Xunta de Galicia ( EM 2012/045 ), C.A., R.S. working at IPATIMUP which is an Associate Laboratory of the Portuguese Ministry of Science, Technology and Higher Education is partially supported by FCT , L.S.M. and H.M. were supported by FCT [PTDC/CS-ANT/108558/2008 Programa COMPETE, European Union Community Support Framework III, co-funding FEDER], D.L. and C.J. were supported by the Collaborative Innovation Center of Judicial Civilization, China University of Political Science and Law , M.E.D’A. and S.D. were supported by the NRF and UWC , J.K.O. was supported by the Ellen og Aage Andersen's Foundation , A.S. would like to thank the Foundations’ Pool Professorship (Paulo Foundation) for support, C.T.S., Y.X., W.W, Q.A. were supported by the Wellcome Trust (grant no. 098051 ), S.N., X.W. B.C. were supported by the National Natural Science Foundation of China (grant nos. 31100906 and 81241136 ), J.H.W. was supported by the Leverhulme Trust , as part of the “Impact of Diasporas on the making of Britain” program (F/00 212/AM), and M.A.J. by a Wellcome Trust Senior Fellowship in Basic Biomedical Science (grant no. 087576 ), R.Y.Y.Y. was supported by MINDEF , Singapore, J.S., M.C.D.U and J.J.R.R were supported by the Department of Science and Technology - Philippine Council for Industry, Energy and Emerging Technology Research and Development (DOST-PCIEERD), the Office of the Vice President for Academic Affairs, University of the Philippines (UP-OVPAA) under its Creative Writing Grant Program and the Office of the Vice Chancellor for Research and Extension, University of the Philippines Los Banos (UPLB-OVCRE). The Benin sample collection has been carried out within a Collaborative Project between Italy (Gruppo Laici Terzo Mondo, Naples) and Benin (Direction de l’Alimentation et de la Nutrition Appliquée, Porto Novo), managed by Prof. M. Cresta and sponsored by Istituto Italiano di Antropologia. M.H.D.L. is a postdoctoral fellow of FWO Vlaanderen. The analysis of the Flemish and Benin samples was made possible by a grant of FWO Vlaanderen. R.S.M.N. was supported by CAPES, R.S. was supported by CNPq. Samples from the Argentinean provinces of Buenos Aires and Formosa were analyzed as part of grants 20020100100744 UBACyT ( University of Buenos Aires ) and PIP 112-200801-02836 ( CONICET ) to DC. DC and MC are members of Carrera del Investigador Científico y Tecnológico-CONICET, Argentina. Certain commercial equipment, instruments and materials are identified in order to specify experimental procedures as completely as possible. In no case does such identification imply a recommendation or endorsement by the National Institute of Standards and Technology nor does it imply that any of the materials, instruments or equipment identified are necessarily the best available for the purpose. The authors would like to acknowledge the Promega Corporation for providing financial support for several of the laboratories participating in this study.
PY - 2014/9
Y1 - 2014/9
N2 - 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.
AB - 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.
KW - AMOVA
KW - Database
KW - Discriminatory power
KW - Gene diversity
KW - Population structure
UR - http://www.scopus.com/inward/record.url?scp=84901332843&partnerID=8YFLogxK
U2 - 10.1016/j.fsigen.2014.04.008
DO - 10.1016/j.fsigen.2014.04.008
M3 - Article
C2 - 24854874
AN - SCOPUS:84901332843
SN - 1872-4973
VL - 12
SP - 12
EP - 23
JO - Forensic Science International: Genetics
JF - Forensic Science International: Genetics
ER -