Navegar

Colección

Datos Estadísticas

Artículo

Pereira, R.; Alves, C.; Aler, M.; Amorim, A.; Arévalo, C.; Betancor, E.; Braganholi, D.; Bravo, M.L.; Brito, P.; Builes, J.J.; Burgos, G.; Carvalho, E.F.; Castillo, A.; Catanesi, C.I.; Cicarelli, R.M.B.; Coufalova, P.; Dario, P.; D'Amato, M.E. (...) Gusmão, L. "A GHEP-ISFG collaborative study on the genetic variation of 38 autosomal indels for human identification in different continental populations" (2018) Forensic Science International: Genetics. 32:18-25
Estamos trabajando para incorporar este artículo al repositorio
Consulte el artículo en la página del editor
Consulte la política de Acceso Abierto del editor

Abstract:

A collaborative effort was carried out by the Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) to promote knowledge exchange between associate laboratories interested in the implementation of indel-based methodologies and build allele frequency databases of 38 indels for forensic applications. These databases include populations from different countries that are relevant for identification and kinship investigations undertaken by the participating laboratories. Before compiling population data, participants were asked to type the 38 indels in blind samples from annual GHEP-ISFG proficiency tests, using an amplification protocol previously described. Only laboratories that reported correct results contributed with population data to this study. A total of 5839 samples were genotyped from 45 different populations from Africa, America, East Asia, Europe and Middle East. Population differentiation analysis showed significant differences between most populations studied from Africa and America, as well as between two Asian populations from China and East Timor. Low FST values were detected among most European populations. Overall diversities and parameters of forensic efficiency were high in populations from all continents. © 2017 Elsevier B.V.

Registro:

Documento: Artículo
Título:A GHEP-ISFG collaborative study on the genetic variation of 38 autosomal indels for human identification in different continental populations
Autor:Pereira, R.; Alves, C.; Aler, M.; Amorim, A.; Arévalo, C.; Betancor, E.; Braganholi, D.; Bravo, M.L.; Brito, P.; Builes, J.J.; Burgos, G.; Carvalho, E.F.; Castillo, A.; Catanesi, C.I.; Cicarelli, R.M.B.; Coufalova, P.; Dario, P.; D'Amato, M.E.; Davison, S.; Ferragut, J.; Fondevila, M.; Furfuro, S.; García, O.; Gaviria, A.; Gomes, I.; González, E.; Gonzalez-Liñan, A.; Gross, T.E.; Hernández, A.; Huang, Q.; Jiménez, S.; Jobim, L.F.; López-Parra, A.M.; Marino, M.; Marques, S.; Martínez-Cortés, G.; Masciovecchio, V.; Parra, D.; Penacino, G.; Pinheiro, M.F.; Porto, M.J.; Posada, Y.; Restrepo, C.; Ribeiro, T.; Rubio, L.; Sala, A.; Santurtún, A.; Solís, L.S.; Souto, L.; Streitemberger, E.; Torres, A.; Vilela-Lamego, C.; Yunis, J.J.; Yurrebaso, I.; Gusmão, L.
Filiación:IPATIMUP (Institute of Molecular Pathology and Immunology of the University of Porto), Porto, Portugal
I3 s (Instituto de Investigação e Inovação em Saúde, Universidade do Porto), Porto, Portugal
Sección de Genética Forense y Criminalística, Servicio de Laboratorio, Instituto de Medicina Legal y Ciencias Forenses de Valencia, Spain
FCUP – Faculty of Sciences of the University of Porto, Portugal
Laboratorio Biología-ADN, Unidad Central de Análisis Científicos, Comisaría General Policía Científica, Madrid, Spain
Laboratorio de Genética Forense del Instituto de Medicina Legal de Las Palmas, Spain
Laboratório de Investigação de Paternidade − NAC-FCFAr − UNESP, Brazil
GENES SAS, Medellín, Colombia
Instituto Nacional de Medicina Legal e Ciências Forenses, Delegação do Centro, Portugal
Instituto de Biologia, Universidad de Antioquia, Medellín, Colombia
Molecular Genetics Laboratory, Cruz Vital, Ecuadorian Red Cross, Quito, Ecuador
Facultad de Ciencias de la Salud, Universidad de Las Américas, Quito, Ecuador
DNA Diagnostic Laboratory (LDD), State University of Rio de Janeiro (UERJ), Rio de Janeiro, Brazil
Laboratorio de Genética, Universidad Industrial de Santander (UIS), Bucaramanga, Santander, Colombia
Identificación Genética – IMBICE, Instituto Multidisciplinario de Biologia Celular (CONICET-UNLP-CIC), La Plata, Argentina
Fac. Cs. Naturales y Museo, Universidad Nacional de La Plata (UNLP), La Plata, Argentina
Department of Genetics, Institute Criminalistics in Prague, Prague, Czech Republic
Instituto Nacional de Medicina Legal e Ciências Forenses, Delegação do Sul, Portugal
Department of Biotechnology, Forensic DNA Lab, University of the Western Cape, Cape Town, South Africa
Laboratori de Genètica (Department de Biologia), Universitat de les Illes Balears, Palma de Mallorca, Spain
Sección de Genética Forense, Instituto de Ciencias Forenses Luis Concheiro, Facultade de Medicina, Universidade de Santiago de Compostela, A Coruña, Spain
Laboratorio de Análisis de ADN, Facultad de Ciencias Médicas – UNCuyo, Mendoza, Argentina
Forensic Science Unit, Forensic Genetics Section, Basque Country Police, Erndio (Bizkaia), Spain
Institute of Legal Medicine, Faculty of Medicine, University of Cologne, Germany
Andros Day Surgery Clinic, Unilab, Forensic Genetics Laboratory, Palermo, Italy
Instituto Nacional de Toxicología y Ciencias Forenses, Delegación de Canarias, Spain
Laboratorio de Genética Forense y Genética de Poblaciones, Depto. de Toxicología y Legislación Sanitaria, Fac. de Medicina, UCMMadrid, Spain
Laboratorio Biología Forense, Departamento de Patología y Cirugía, Universidad Miguel Hernández, Elche, Spain
Laboratório DNA referencia, Serviço de Imunologia, Hospital de Clínicas de, Porto Alegre, Brazil
Laboratorio de Genética Molecular, DNA Profiles, Centro Universitario de la Ciénega, Universidad de Guadalajara (CUCI-UdeG)Jalisco, Mexico
IACA Laboratorios, Bahía Blanca, Argentina
Departamento de Biología del Servicio de Criminalística de la Guardia CivilMadrid, Spain
Unidad de Analisis de ADN (COFyBCF)Buenos Aires, Argentina
Instituto Nacional de Medicina Legal e Ciências Forenses, Delegação do Norte, Portugal
IdentiGEN – Genetic Identification Laboratory and Research Group of Genetic Identification, Institute of Biology, School of Natural and Exact Sciences (FCEN), University of Antioquia, Medellin, Antioquia, Colombia
Genética Molecular de Colombia Ldta, Bogotá, Colombia
Departamento de Anatomia y Medicina Legal, Laboratorio de periciales Médico Legales de la Universidad de Málaga, Spain
Servicio de Huellas Digitales Genéticas, Facultad de Farmacía y Bioquímica, Universidad de Buenos Aires, Argentina
Unit of Legal Medicine, University of Cantabria, Santander, Cantabria, Spain
Laboratorio Clínico Genetix, S.A., Panama
Laboratório de Genética Aplicada, Departamento de Biologia, Universidade de Aveiro, Portugal
Laboratorio Genia GeoMontevideo, Uruguay
INTS, Paris, France
Servicios Médicos Yunis Turbay y Cia, Bogotá, Colombia
Palabras clave:Allele frequency databases; Forensic genetics; Human identification; Insertion deletion (indel); Population data; Angola; Argentina; Article; autosome; Brazil; Cape Verde; China; Colombia; comparative study; Czech Republic; Ecuador; forensic genetics; France; gene frequency; genetic distance; genetic variation; genotype; Germany; homozygote; human; indel mutation; Iraq; Italy; major clinical study; Mexico; Panama; population genetics; Portugal; priority journal; South Africa; Spain; Sudan; Timor-Leste; Uganda; Uruguay; ancestry group; DNA fingerprinting; ethnic group; genetics; laboratory; nucleic acid database; single nucleotide polymorphism; statistics and numerical data; microsatellite DNA; Continental Population Groups; Databases, Nucleic Acid; DNA Fingerprinting; Ethnic Groups; Gene Frequency; Genetics, Population; Genotype; Humans; INDEL Mutation; Laboratories; Microsatellite Repeats; Polymorphism, Single Nucleotide
Año:2018
Volumen:32
Página de inicio:18
Página de fin:25
DOI: http://dx.doi.org/10.1016/j.fsigen.2017.09.012
Título revista:Forensic Science International: Genetics
Título revista abreviado:Forensic Sci. Int. Genet.
ISSN:18724973
Registro:https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_18724973_v32_n_p18_Pereira

Referencias:

  • Jobling, M.A., Gill, P., Encoded evidence: DNA in forensic analysis (2004) Nat. Rev. Genet., 5 (10), pp. 739-751
  • Schneider, P.M., Beyond STRs: the role of diallelic markers in forensic genetics (2012) Transf. Med. Hemother., 39 (3), pp. 176-180
  • Amorim, A., Pereira, L., Pros and cons in the use of SNPs in forensic kinship investigation: a comparative analysis with STRs (2005) Forensic Sci. Int., 150 (1), pp. 17-21
  • Gill, P., An assessment of the utility of single nucleotide polymorphisms (SNPs) for forensic purposes (2001) Int. J. Legal Med., 114 (4-5), pp. 204-210
  • Eduardoff, M., Gross, T.E., Santos, C., de la Puente, M., Ballard, D., Strobl, C., Borsting, C., Phillips, C., Inter-laboratory evaluation of the EUROFORGEN Global ancestry-informative SNP panel by massively parallel sequencing using the Ion PGM (2016) Forensic Sci. Int. Genet., 23, pp. 178-189
  • Grandell, I., Samara, R., Tillmar, A.O., A SNP panel for identity and kinship testing using massive parallel sequencing (2016) Int. J. Legal Med., 130 (4), pp. 905-914
  • Sanchez, J.J., Phillips, C., Børsting, C., Balogh, K., Bogus, M., Fondevila, M., Harrison, C.D., Morling, N., A multiplex assay with 52 single nucleotide polymorphisms for human identification (2006) Electrophoresis, 27 (9), pp. 1713-1724
  • Pereira, R., Phillips, C., Alves, C., Amorim, A., Carracedo, A., Gusmão, L., A new multiplex for human identification using insertion/deletion polymorphisms (2009) Electrophoresis, 30 (21), pp. 3682-3690. , (Epub 29/10/2009)
  • Santos, N.P., Ribeiro-Rodrigues, E.M., Ribeiro-dos-Santos, A.K., Pereira, R., Gusmão, L., Amorim, A., Guerreiro, J.F., Santos, S.E., Assessing individual interethnic admixture and population substructure using a 48-insertion-deletion (INDEL) ancestry-informative marker (AIM) panel (2010) Hum. Mutat., 31 (2), pp. 184-190. , (Epub 03/12/2009)
  • LaRue, B.L., Ge, J., King, J.L., Budowle, B., A validation study of the Qiagen investigator DIPplex(R) kit; an INDEL-based assay for human identification (2012) Int. J. Legal Med., 126 (4), pp. 533-540
  • Zaumsegel, D., Rothschild, M.A., Schneider, P.M., A 21 marker insertion deletion polymorphism panel to study biogeographic ancestry (2013) Forensic Sci. Int. Genet., 7 (2), pp. 305-312
  • Santos, C., Fondevila, M., Ballard, D., Banemann, R., Bento, A.M., Borsting, C., Branicki, W., Consortium EU-N, Forensic ancestry analysis with two capillary electrophoresis ancestry informative marker (AIM) panels: results of a collaborative EDNAP exercise (2015) Forensic Sci. Int. Genet., 19, pp. 56-67
  • Pereira, R., Phillips, C., Alves, C., Amorim, A., Carracedo, Á., Gusmão, L., Insertion/deletion polymorphisms: a multiplex assay and forensic applications (2009) Forensic Sci. Int. Genet. Suppl. Ser., 2 (1), pp. 513-515
  • Romanini, C., Catelli, M.L., Borosky, A., Pereira, R., Romero, M., Salado Puerto, M., Phillips, C., Vullo, C.M., Typing short amplicon binary polymorphisms: supplementary SNP and Indel genetic information in the analysis of highly degraded skeletal remains (2012) Forensic Sci. Int. Genet., 6 (4), pp. 469-476. , (Epub 29/11/2011)
  • Fernández, K., Gómez, J., García-Hirschfeld, J., Cubillo, E., Cubillo, E., de la Torre, C.S., Vallejo, G., Accreditation of the GHEP-ISFG proficiency test: one step forward to assure and improve quality (2015) Forensic Sci. Int. Genet. Suppl. Ser., 5, pp. e515-e517
  • Gomes, V., Sanchez-Diz, P., Alves, C., Gomes, I., Amorim, A., Carracedo, A., Gusmão, L., Population data defined by 15 autosomal STR loci in Karamoja population (Uganda) using AmpF/STR Identifiler kit (2009) Forensic Sci. Int. Genet., 3 (2), pp. e55-e58
  • Hefke, G., Davison, S., D'Amato, M.E., Forensic performance of Investigator DIPplex indels genotyping kit in native, immigrant, and admixed populations in South Africa (2015) Electrophoresis, 36 (24), pp. 3018-3025
  • Martinez-Cortes, G., Gusmao, L., Pereira, R., Salcido, V.H., Favela-Mendoza, A.F., Munoz-Valle, J.F., Inclan-Sanchez, A., Rangel-Villalobos, H., Genetic structure and forensic parameters of 38 Indels for human identification purposes in eight Mexican populations (2015) Forensic Sci. Int. Genet., 17, pp. 149-152
  • Excoffier, L., Lischer, H.E.L., Arlequin suite ver 3.5: a new series of programs to perform population genetics analyses under Linux and Windows (2010) Mol. Ecol. Resources, 10 (3), pp. 564-567
  • Felsenstein, J., PHYLIP − phylogeny inference package (Version 3.2) (1989) Cladistics, 5, pp. 164-166
  • Page, R.D., TreeView: an application to display phylogenetic trees on personal computers (1996) Comput. Appl. Biosci., 12 (4), pp. 357-358
  • Heath, S.C., Gut, I.G., Brennan, P., McKay, J.D., Bencko, V., Fabianova, E., Foretova, L., Lathrop, M., Investigation of the fine structure of European populations with applications to disease association studies (2008) Eur. J. Hum. Genet., 16 (12), pp. 1413-1429
  • Nelis, M., Esko, T., Magi, R., Zimprich, F., Zimprich, A., Toncheva, D., Karachanak, S., Metspalu, A., Genetic structure of Europeans: a view from the North-East (2009) PLoS One, 4 (5), p. e5472
  • Tian, C., Kosoy, R., Nassir, R., Lee, A., Villoslada, P., Klareskog, L., Hammarstrom, L., Seldin, M.F., European population genetic substructure: further definition of ancestry informative markers for distinguishing among diverse European ethnic groups (2009) Mol. Med., 15 (11-12), pp. 371-383
  • Manta, F.S., Pereira, R., Vianna, R., ARBd, A., Gitaí, D.L.G., Silva, D.A., EdV, W., Gusmão, L., Revisiting the genetic ancestry of Brazilians using autosomal AIM-Indels (2013) PLoS One, 8 (9), p. e75145
  • Bonilla, C., Bertoni, B., Hidalgo, P.C., Artagaveytia, N., Ackermann, E., Barreto, I., Cancela, P., Kittles, R.A., Breast cancer risk and genetic ancestry: a case-control study in Uruguay (2015) BMC Womens Health, 15, p. 11
  • Ossa, H., Aquino, J., Pereira, R., Ibarra, A., Ossa, R.H., Perez, L.A., Granda, J.D., Gusmão, L., Outlining the ancestry landscape of Colombian admixed populations (2016) PLoS One, 11 (10), p. e0164414
  • Beleza, S., Campos, J., Lopes, J., Araujo, I.I., Hoppfer Almada, A., Correia e Silva, A., Parra, E.J., Rocha, J., The admixture structure and genetic variation of the archipelago of Cape Verde and its implications for admixture mapping studies (2012) PLoS One, 7 (11), p. e51103
  • Romero, I.G., Manica, A., Goudet, J., Handley, L.L., Balloux, F., How accurate is the current picture of human genetic variation? (2009) Heredity, 102 (2), pp. 120-126. , (Epub 2008/09/04. hdy200889 [pii] 1038/hdy.2008.89)
  • http://www.nature.com/nature/journal/v526/n7571/abs/nature15393html#supplementary-information, The 1000 Genomes Project Consortium. A global reference for human genetic variation. Nature. 2015; 526 (7571): 68–74. 10.1038/nature15393; Manta, F., Caiafa, A., Pereira, R., Silva, D., Amorim, A., Carvalho, E.F., Gusmão, L., Indel markers: genetic diversity of 38 polymorphisms in Brazilian populations and application in a paternity investigation with post mortem material (2012) Forensic Sci. Int. Genet., 6 (5), pp. 658-661
  • Cardoso, S., Sevillano, R., Gamarra, D., Santurtún, A., Martínez-Jarreta, B., de Pancorbo, M.M., Population genetic data of 38 insertion-deletion markers in six populations of the northern fringe of the Iberian Peninsula (2017) Forensic Sci. Int. Genet., 27, pp. 175-179
  • Ferreira Palha Tde, J., Ribeiro Rodrigues, E.M., Cavalcante, G.C., Marrero, A., de Souza, I.R., Seki Uehara, C.J., Silveira da Motta, C.H., Santos, S., Population genetic analysis of insertion-deletion polymorphisms in a Brazilian population using the investigator DIPplex kit (2015) Forensic Sci. Int. Genet., 19, pp. 10-14
  • Martin, P., Garcia, O., Heinrichs, B., Yurrebaso, I., Aguirre, A., Alonso, A., Population genetic data of 30 autosomal indels in Central Spain and the Basque Country populations (2013) Forensic Sci. Int. Genet., 7 (2), pp. e27-e30
  • Saiz, M., Andre, F., Pisano, N., Sandberg, N., Bertoni, B., Pagano, S., Allelic frequencies and statistical data from 30 INDEL loci in Uruguayan population (2014) Forensic Sci. Int. Genet., 9, pp. e27-e29
  • Tomas, C., Poulsen, L., Drobnic, K., Ivanova, V., Jankauskiene, J., Bunokiene, D., Borsting, C., Morling, N., Thirty autosomal insertion-deletion polymorphisms analyzed using the Investigator(R) DIPplex Kit in populations from Iraq, Lithuania, Slovenia, and Turkey (2016) Forensic Sci. Int. Genet., 25, pp. 142-144
  • Shi, M., Liu, Y., Bai, R., Jiang, L., Lv, X., Ma, S., Population data of 30 insertion-deletion markers in four Chinese populations (2015) Int. J. Legal Med., 129 (1), pp. 53-56
  • Wang, L., Lv, M., Zaumsegel, D., Zhang, L., Liu, F., Xiang, J., Li, J., Zhang, L., A comparative study of insertion/deletion polymorphisms applied among Southwest, South and Northwest Chinese populations using Investigator® DIPplex (2016) Forensic Sci. Int. Genet., 21, pp. 10-14
  • Martinez-Cortes, G., Garcia-Aceves, M., Favela-Mendoza, A.F., Munoz-Valle, J.F., Velarde-Felix, J.S., Rangel-Villalobos, H., Forensic parameters of the Investigator DIPplex kit (Qiagen) in six Mexican populations (2016) Int. J. Legal Med., 130 (3), pp. 683-685
  • Fondevila, M., Phillips, C., Santos, C., Pereira, R., Gusmao, L., Carracedo, A., Butler, J.M., Vallone, P.M., Forensic performance of two insertion-deletion marker assays (2012) Int. J. Legal Med., 126 (5), pp. 725-737
  • Hill, C.R., Duewer, D.L., Kline, M.C., Coble, M.D., Butler, J.M., U.S. population data for 29 autosomal STR loci (2013) Forensic Sci. Int. Genet., 7 (3), pp. e82-e83

Citas:

---------- APA ----------
Pereira, R., Alves, C., Aler, M., Amorim, A., Arévalo, C., Betancor, E., Braganholi, D.,..., Gusmão, L. (2018) . A GHEP-ISFG collaborative study on the genetic variation of 38 autosomal indels for human identification in different continental populations. Forensic Science International: Genetics, 32, 18-25.
http://dx.doi.org/10.1016/j.fsigen.2017.09.012
---------- CHICAGO ----------
Pereira, R., Alves, C., Aler, M., Amorim, A., Arévalo, C., Betancor, E., et al. "A GHEP-ISFG collaborative study on the genetic variation of 38 autosomal indels for human identification in different continental populations" . Forensic Science International: Genetics 32 (2018) : 18-25.
http://dx.doi.org/10.1016/j.fsigen.2017.09.012
---------- MLA ----------
Pereira, R., Alves, C., Aler, M., Amorim, A., Arévalo, C., Betancor, E., et al. "A GHEP-ISFG collaborative study on the genetic variation of 38 autosomal indels for human identification in different continental populations" . Forensic Science International: Genetics, vol. 32, 2018, pp. 18-25.
http://dx.doi.org/10.1016/j.fsigen.2017.09.012
---------- VANCOUVER ----------
Pereira, R., Alves, C., Aler, M., Amorim, A., Arévalo, C., Betancor, E., et al. A GHEP-ISFG collaborative study on the genetic variation of 38 autosomal indels for human identification in different continental populations. Forensic Sci. Int. Genet. 2018;32:18-25.
http://dx.doi.org/10.1016/j.fsigen.2017.09.012