GHEP-ISFG collaborative exercise on mixture profiles of autosomal STRs (GHEP-MIX01, GHEP-MIX02 and GHEP-MIX03): results and evaluation

One of the main objectives of the Spanish and Portuguese-Speaking Group of the International Society for Forensic Genetics (GHEP-ISFG) is to promote and contribute to the development and dissemination of scientific knowledge in the area of forensic genetics. Due to this fact, GHEP-ISFG holds different working commissions that are set up to develop activities in scientific aspects of general interest. One of them, the Mixture Commission of GHEP-ISFG, has organized annually, since 2009, a collaborative exercise on analysis and interpretation of autosomal short tandem repeat (STR) mixture profiles. Until now, three exercises have been organized (GHEP-MIX01, GHEP-MIX02 and GHEP-MIX03), with 32, 24 and 17 participant laboratories respectively. The exercise aims to give a general vision by addressing, through the proposal of mock cases, aspects related to the edition of mixture profiles and the statistical treatment. The main conclusions obtained from these exercises may be summarized as follows. Firstly, the data show an increased tendency of the laboratories toward validation of DNA mixture profiles analysis following international recommendations (ISO/IEC 17025:2005). Secondly, the majority of discrepancies are mainly encountered in stutters positions (53.4%, 96.0% and 74.9%, respectively for the three editions). On the other hand, the results submitted reveal the importance of performing duplicate analysis by using different kits in order to reduce errors as much as possible. Regarding the statistical aspect (GHEP-MIX02 and 03), all participants employed the likelihood ratio (LR) parameter to evaluate the statistical compatibility and the formulas employed were quite similar. When the hypotheses to evaluate the LR value were locked by the coordinators (GHEP-MIX02) the results revealed a minor number of discrepancies that were mainly due to clerical reasons. However, the GHEP-MIX03 exercise allowed the participants to freely come up with their own hypotheses to calculate the LR value. In this situation the laboratories reported several options to explain the mock cases proposed and therefore significant differences between the final LR values were obtained. Complete information concerning the background of the criminal case is a critical aspect in order to select the adequate hypotheses to calculate the LR value. Although this should be a task for the judicial court to decide, it is important for the expert to account for the different possibilities and scenarios, and also offer this expertise to the judge. In addition, continuing education in the analysis and interpretation of mixture DNA profiles may also be a priority for the vast majority of forensic laboratories.Fil: Sala, Adriana Andrea. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Crespillo, M.. Instituto Nacional de Toxicología y Ciencias Forenses; EspañaFil: Barrio, P. A.. Instituto Nacional de Toxicología y Ciencias Forenses; EspañaFil: Luque, J. A.. Instituto Nacional de Toxicología y Ciencias Forenses; EspañaFil: Alves, Cíntia. Universidad de Porto; PortugalFil: Aler, M.. Servicio de Laboratorio. Sección de Genética Forense y Criminalística; EspañaFil: Alessandrini, F.. Università Politecnica delle Marche. Department of Biomedical Sciences and Public Health; ItaliaFil: Andrade, L.. Instituto Nacional de Medicina Legal e Ciências Forenses, Delegação do Centro. Serviço de Genética e Biologia Forenses; PortugalFil: Barretto, R. M.. Universidade Estadual Paulista Julio de Mesquita Filho; BrasilFil: Bofarull, A.. Instituto Nacional de Toxicología y Ciencias Forenses; EspañaFil: Costa, S.. Instituto Nacional de Medicina Legal y Ciencias Forenses; PortugalFil: García, M. A.. Servicio de Criminalística de la Guardia Civil. Laboratorio Central de Criminalística. Departamento de Biología; EspañaFil: García, O.. Basque Country Police. Forensic Genetics Section. Forensic Science Unit; EspañaFil: Gaviria, A.. Cruz Roja Ecuatoriana. Laboratorio de Genética Molecular; EcuadorFil: Gladys, A.. Corte Suprema de Justicia de la Nación; ArgentinaFil: Gorostiza, A.. Grupo Zeltia. Genomica S. A. U.. Laboratorio de Identificación Genética; EspañaFil: Hernández, A.. Instituto Nacional de Toxicología y Ciencias Forenses; EspañaFil: Herrera, M.. Laboratorio Genda S. A.; ArgentinaFil: Hombreiro, L.. Jefatura Superior de Policía de Galicia. Brigada de Policía Científica. Laboratorio Territorial de Biología – ADN; EspañaFil: Ibarra, A. A.. Universidad de Antioquia; ColombiaFil: Jiménez, M. J.. Policia de la Generalitat – Mossos d’Esquadra. Divisió de Policia Científica. Àrea Central de Criminalística. Unitat Central de Laboratori Biològic; EspañaFil: Luque, G. M.. Instituto Nacional de Toxicología y Ciencias Forenses; EspañaFil: Madero, P.. Centro de Análisis Genéticos; EspañaFil: Martínez Jarreta, B.. Universidad de Zaragoza; EspañaFil: Masciovecchio, M. Verónica. IACA Laboratorios; ArgentinaFil: Modesti, Nidia Maria. Provincia de Córdoba. Poder Judicial; ArgentinaFil: Moreno, F.. Servicio Médico Legal. Unidad de Genética Forense; ChileFil: Pagano, S.. Dirección Nacional de Policía Técnica. Laboratorio de Análisis de ADN para el CODIS; UruguayFil: Pedrosa, S.. Navarra de Servicios y Tecnologías S. A. U.; EspañaFil: Plaza, G.. Neodiagnostica S. L.; EspañaFil: Prat, E.. Comisaría General de Policía Científica. Laboratorio de ADN; EspañaFil: Puente, J.. Laboratorio de Genética Clínica S. L.; EspañaFil: Rendo, F.. Universidad del País Vasco; EspañaFil: Ribeiro, T.. Instituto Nacional de Medicina Legal e Ciências Forenses, Delegação Sul. Serviço de Genética e Biologia Forenses; PortugalFil: Santamaría, E.. Instituto Nacional de Toxicología y Ciencias Forenses; EspañaFil: Saragoni, V. G.. Servicio Médico Legal. Departamento de Laboratorios. Unidad de Genética Forense; ChileFil: Whittle, M. R.. Genomic Engenharia Molecular; Brasi

Characterization of the HIV-1 Subtypes present in Córdoba (Argentina) from nearly the beginning of the infection, using the Pol and Env genes

Objective: Identify the HIV-1 subtypes circulating in Córdoba, Argentina, in the period 1986-2001. Methods: Sequences of the pol and env genes from strains of Córdoba were compared with those of the HIV-1 M-group (several subtypes and circulating recombinant forms). Then, to determine if Cordobas subtypes had a single or multiple geographic origins, sequences were subdivided into pure-subtype data sets (avoiding the effects of recombination) and compared with sequences of diverse geographic origin. Results: Eighteen strains were subtype B, seven B/F1, one C and one F1. The B/F1 were: two CRF12_B/F1 and five unique recombinant forms (URF_B/F1). Córdoba?s subtype B would have multiple geographic origins, while subtypes F1 and C would have been introduced from Brazil or from Buenos Aires. Conclusions: The HIV-1 infection in Córdoba was complex since its very beginning and reveals its close contact, through tourism and commercial activities, with Buenos Aires and Brazil.Fil: González Ittig, Raúl Enrique. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Diversidad y Ecología Animal. Universidad Nacional de Córdoba. Facultad de Ciencias Exactas Físicas y Naturales. Instituto de Diversidad y Ecología Animal; ArgentinaFil: Lucca, María A.. Provincia de Córdoba. Ministerio de Ciencia y Técnica. Centro de Excelencia en Productos y Procesos de Córdoba; ArgentinaFil: Caeiro, Luciana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto Multidisciplinario de Biología Vegetal. Universidad Nacional de Córdoba. Facultad de Ciencias Exactas Físicas y Naturales. Instituto Multidisciplinario de Biología Vegetal; ArgentinaFil: Modesti, Nidia Maria. Provincia de Córdoba. Ministerio de Ciencia y Técnica. Centro de Excelencia en Productos y Procesos de Córdoba; Argentin

Biological kinship in 750 year old human remains from Central Argentina with signs of interpersonal violence

Human skeletal remains of an adult male (20–24 years old) and a juvenile (4–8 years old), dated to 750 ± 85 14C years BP, were found on the southern margin of Mar Chiquita Lagoon (Córdoba, Argentina). Both individuals show signs of being victims of interpersonal violence, with arrowheads associated with the remains and perimortem lesions on the juvenile, as well as an unusual form of burial, with the juvenile partially overlapped with the adult. The aim of this work is to study a possible kin relationship between these two individuals through ancient DNA analysis. Biological kinship was evaluated by autosomal and Y-chromosome STR (short tandem repeat) typing, PCR-APLP for SNP determination and hypervariable region I sequencing of the mitochondrial DNA. Genetic analyses indicated that these individuals shared the same Y-chromosomal haplotype but different mitochondrial lineages. The likelihood ratio based on autosomal loci indicates that the genetic profiles of the human remains would be more likely to be that indicating a father-son bond. The paleogenetic approach combined with forensic genetic methods applied to this study allowed us to confirm a hypothesis that originated in bioarchaeological evidence. This study constitutes a unique case in Argentina of kinship determination based on DNA profiles of human remains in an archaeological context of interpersonal violence. It is important to highlight the contribution made by these studies to address topics usually hidden in bioarchaeological studies, such as community organization, cultural customs and mortuary practices.Fil: Nores, Rodrigo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Antropología de Córdoba. Universidad Nacional de Córdoba. Facultad de Filosofía y Humanidades. Instituto de Antropología de Córdoba; ArgentinaFil: Rena, Viviana. Gobierno de la Provincia de Córdoba. Tribunal Superior de Justicia. Instituto de Genética Forense; ArgentinaFil: Angeletti, Sofia Claudia. Gobierno de la Provincia de Córdoba. Tribunal Superior de Justicia. Instituto de Genética Forense; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; ArgentinaFil: Demarchi, Dario. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Antropología de Córdoba. Universidad Nacional de Córdoba. Facultad de Filosofía y Humanidades. Instituto de Antropología de Córdoba; ArgentinaFil: Modesti, Nidia Maria. Gobierno de la Provincia de Córdoba. Tribunal Superior de Justicia. Instituto de Genética Forense; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; ArgentinaFil: Fabra, Mariana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Antropología de Córdoba. Universidad Nacional de Córdoba. Facultad de Filosofía y Humanidades. Instituto de Antropología de Córdoba; Argentin

Investigator® HDplex (Qiagen) reference population database for forensic use in Argentina

Currently, autosomal Short Tandem Repeat (STR) markers represent the method of election in forensic human identification. Commercial kits of most common use nowadays –e.g. PowerPlex®Fusion, Promega Corp.; AmpFlSTR GlobalFiler, Thermofisher scientific; Investigator 24Plex QS,Qiagen-, allow the co-amplification of 23 highly polymorphic STR loci providing a high discrimination power in human identity testing. However, in complex kinship analysis and familial database searches involving distant relationships, additional DNA typing is often required in order to achieve well-founded conclusions. The recently developed kit Investigator® HDplex (Qiagen) co-amplify twelve autosomal STRs markers (D7S1517, D3S1744, D12S391, D2S1360, D6S474, D4S2366, D8S1132, D5S2500, D18S51, D21S2055, D10S2325, SE33), nine of which are not present in the above mentioned kits, providing a set of efficient supplementary markers for human identification purposes. In this study we genotyped a sample of 980 individuals from urban areas of ten Argentinean provinces using the Investigator® HDplex kit, aiming to provide forensic estimates for use in forensic casework and parentage testing in Argentina. We report reference allelic frequency databases for each of the provinces studied as well as for the combined samples. No deviation of Hardy-Weinberg equilibrium was observed. A reasonable discrimination capacity and power of exclusion was estimated which allowed predicting an acceptable forensic behavior of this kit, either to be used as the main STR panel for simple cases or as an auxiliary tool in complex cases. Additionally, population comparison tests showed that the studied samples are relatively homogeneous across the country for these STR set.Fil: Martínez, Gustavo. Poder Judicial de la Provincia de Entre Ríos; ArgentinaFil: Borosky, Alicia. LIDMO; ArgentinaFil: Corach, Daniel. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica; ArgentinaFil: Llull, Cintia. Fundación Favaloro; ArgentinaFil: Locarno, Laura. Ministerio Público de la Provincia de Mendoza; ArgentinaFil: Lojo, Maria Mercedes. Poder Judicial de la Provincia de Buenos Aires; ArgentinaFil: Marino, Miguel Eduardo. Ministerio Público de la Provincia de Mendoza; ArgentinaFil: Miozzo, Maria Cecilia. Poder Judicial de Jujuy; ArgentinaFil: Modesti, Nidia Maria. Poder Judicial de Córdoba; ArgentinaFil: Pacharoni, Carla. Poder Judicial de Córdoba; ArgentinaFil: Pilili, Juan Pablo. Poder Judicial de la Provincia de Buenos Aires; ArgentinaFil: Ramella, María Isabel. Poder Judicial de Jujuy; ArgentinaFil: Sala, Adriana Andrea. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica; ArgentinaFil: Schaller, Cecilia. Poder Judicial de la Provincia de Entre Ríos; ArgentinaFil: Vullo, Carlos. LIDMO; Argentina. Equipo Argentino de Antropología Forense; ArgentinaFil: Toscanini, Ulises. Fundación Favaloro; Argentin

GHEP-ISFG proficiency test 2011: Paper challenge on evaluation of mitochondrial DNA results

The GHEP-ISFG Working Group performed a collaborative exercise to monitor the current practice of mitochondrial (mt)DNA reporting. The participating laboratories were invited to evaluate a hypothetical case example and assess the statistical significance of a match between the haplotypes of a case (hair) sample and a suspect. A total of 31 forensic laboratories participated of which all but one used the EMPOP database. Nevertheless, we observed a tenfold range of reported LR values (32–333.4), which was mainly due to the selection of different reference datasets in EMPOP but also due to different applied formulae. The results suggest the need for more standardization as well as additional research to harmonize the reporting of mtDNA evidence.Fil: Prieto, L.. Instituto Universitario de Investigación en Ciencias Policiales. Comisarıía General de Policía Científica; EspañaFil: Alves, Cíntia. Universidad de Porto; PortugalFil: Zimmermann, B.. Universidad de Innsbruck; AustriaFil: Tagliabracci, A.. Università Politecnica delle Marche. Dipartimento Scienze Biomediche e Sanità Pubblica, Medicina Legale; ItaliaFil: Prieto, V.. Instituto Nacional de Toxicología y Ciencias Forenses; EspañaFil: Montesino, M.. Instituto Universitario de Investigación en Ciencias Policiales. Comisarıía General de Policía Científica; EspañaFil: Whitte, M. R.. Genomic Engenharia Molecular; BrasilFil: Anjos, M. J.. National Institute of Legal Medicine; PortugalFil: Cardoso, S.. Universidad del País Vasco; EspañaFil: Heinrichs, B.. Instituto Nacional de Toxicología y Ciencias Forenses; EspañaFil: Hernandez, A.. Instituto Nacional de Toxicología y Ciencias Forenses; EspañaFil: Lopez Parra, A. M.. Universidad Complutense de Madrid; EspañaFil: Sala, Adriana Andrea. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Servicio de Huellas Digitales Genéticas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Saragoni, V. G.. Legal Medicine Service. Forensic Genetics Unit; ChileFil: Burgos G.. Red Cross. Molecular Genetics Laboratory; EcuadorFil: Marino, Miguel Eduardo. Universidad Nacional de Cuyo. Facultad de Ciencias Médicas. Laboratorio de Análisis de ADN; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Paredes, M.. Instituto Nacional de Toxicología y Ciencias Forenses; EspañaFil: Mora Torres, C. A.. Instituto Nacional de Medicina Legal y Ciencias Forenses; ColombiaFil: Angulo, R.. Poder Judicial. Departamento de Ciencias Forenses; Costa RicaFil: Chemale, G.. Federal Police. National Institute of Criminalistics. Forensic Genetics Laboratory; BrasilFil: Vullo, Carlos. Equipo Argentino de Antropología Forense; Argentina. Laboratorio de Inmunogenética y Diagnóstico Molecular; ArgentinaFil: Sánchez Simón, M.. Citogen. Centro de Análisis Genéticos; EspañaFil: Comas, D.. Consejo Superior de Investigaciones Científicas; España. Universitat Pompeu Fabra; España. Instituto de Biología Evolutiva; EspañaFil: Puente, J.. LabGenetics; EspañaFil: López Cubría, C. M.. Guardia Civil. Departamento de Biología. Servicio de Criminalística; EspañaFil: Modesti, Nidia Maria. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Provincia de Córdoba. Poder Judicial; ArgentinaFil: Aler, M.. Institute of Legal Medicine of Valencia; EspañaFil: Merigioli, S.. Universidad de Porto; PortugalFil: Betancor, E.. Universidad de Innsbruck; AustriaFil: Pedrosa, D.. Nasersa; EspañaFil: Plaza, G.. Neodiagnóstica; EspañaFil: Masciovecchio, M. V.. IACA Laboratories; ArgentinaFil: Schneider, P. M.. Universitat Zu Köln; AlemaniaFil: Parson, Walther. Universidad de Innsbruck; Austri