Aportaciones y avances de la genética forense en los sucesos con víctimas múltiples / Contributions and advances of forensic genetics in mass fatality incidents

La identificación de los afectados por un suceso con víctimas múltiples es una prioridad por razones humanitarias y legales. La genética forense juega un importante papel en estas situaciones que, por su complejidad, a menudo se convierten en un reto para los distintos profesionales implicados. El establecimiento de guías y recomendaciones facilita el seguimiento de protocolos estandarizados que permiten garantizar la fiabilidad del resultado final de la identificación. Así mismo, los avances en la genética forense contribuyen a agilizar la respuesta, aportando nuevas estrategias de análisis y herramientas de tipo bioinformático. Con este artículo, se pretende ofrecer una visión general de cómo la genética forense y sus avances pueden contribuir en estas situaciones, así como algunas claves para entender la labor de los laboratorios de genética forense en la identificación de cadáveres en sucesos con víctimas múltiples. (AU)

Disaster victim identification is crucial for humanitarian and legal reasons. Forensic genetics plays an important role in these situations which often become a challenge for the different professionals involved due to their complexity. The establishment of guidelines and recommendations makes it easier to follow standardized protocols that make it possible to guarantee the reliability of the identification final result. Likewise, advances in forensic genetics contribute to speeding up the response, providing new analysis strategies and bioinformatic tools. This article aims to provide an overview of how forensic genetics and its advances can contribute in these situations, as well as some keys to understanding the work of forensic genetics laboratories in the identification of corpses in events with multiple victims. (AU)

La necesidad del intercambio transfronterizo de datos genéticos con fines de investigación criminal en América Latina: retos para su implementación / The need for cross-border exchange of genetic data for criminal investigation purposes in Latin America: implementation challenges

Las bases de datos genéticas con fines de investigación criminal constituyen una herramienta de indiscutible utilidad en la investigación de hechos delictivos.En América Latina existe un progresivo avance en la implementación de bases de datos para uso forense. La legislación existente es escasa, y heterogénea, tanto respecto de los delitos que se incluyen, como de la situación de los individuos cuyo ADN es pasible de registro. La mayoría no exige la acreditación de los laboratorios forenses bajo la norma ISO 17025. Las bases de datos de ADN existentes carecen, actualmente, de un régimen normalizado de comunicación.El establecimiento de un sistema de consulta e intercambio de datos genéticos en apoyo a los sistemas penales nacionales y a la persecución de delitos a nivel internacional, demanda acuerdos de cooperación, para lo cual, los implementados en la Unión Europea desde 1992, perfeccionados con la decisión de Prüm, constituyen un valioso referente. (AU)

DNA databases for criminal investigation purposes, constitute a tool of indisputable utility in the investigation of criminal acts.In the countries of Latin America there is a progressive advance in the implementation of databases for forensic use. The existing legislation is limited, and it is also heterogeneous both with respect to the crimes included and the procedural situation of the individuals whose DNA is subject to registration. Most of them do not require the accreditation of the forensic laboratories under the ISO 17025 standard. Existing DNA databases currently lack a standard communication regime.The establishment of a system of consultation and exchange of genetic data in support of national criminal systems and the prosecution of crimes at the international level, demands cooperation agreements, for which, those implemented in the European Union since 1992, perfected with the decision of Prüm, constitute a valuable reference. (AU)

Designing and implementing a large-scale high-throughput Total Laboratory Automation (TLA) system for DNA database construction.

This article describes a Total Laboratory Automation (TLA) system for DNA sample (FTA sample collection paper cwards or whole blood) processing, including barcoding, FTA card hole-punching or whole blood DNA extraction, PCR amplification, CE analysis and data acquisition process. This system designed to meet the needs of massive DNA database construction. Daily sample handling capacity for this TLA system is 800pcs (within 8h) to 2400pcs (within 24h). No such scaled system has previously used as STR analysis. Thus, it was important to find a suitable proportion numbers for different kind of components within the TLA system and to achieve the maximum efficiency as well as to make sure the system could achieve and maintain stable performance in continuously handling substantial DNA samples through performance test and stability test, in order to meet the needs of massive DNA database construction. In addition, the TLA system incorporates a novel track line system named RackRunner, a robotic access to all components in the pipeline, designed to transfer 96-well microplates whilst prevent all kinds of cross-contamination during STR tests. Experiments were undertaken to prove the performance of these factors in maintaining the STR test efficiency and prevent cross-contamination. This TLA system is also programmable for NGS (Next Generation Sequencing) tests in massive DNA Genome database construction without major changes.

Large scale DNA identification: The ICMP experience.

The International Commission on Missing Persons (ICMP) is a treaty-based international organization with a global mandate to address the issue of missing persons. It works with governments, civil society organizations, and others, and utilizes data systems and technical assistance in forensic science. ICMP's initial work focused on the ∼40,000 people missing in the Western Balkans from the conflicts of the 1990s. A "DNA-led" approach to large-scale DNA identification of the missing was developed, based on high-throughput autosomal STR testing of skeletal remains from mass graves and other sites, and the establishment of a regional database of DNA profiles from family members of the missing. Database pairwise and pedigree kinship searching is conducted using in-house DNA matching software, the Identification Data Management System (iDMS), providing high-certainty DNA matches that are integrated in a multi-disciplinary identification process. Anthropological guidelines for sampling skeletal remains for DNA testing are based on tens of thousands of tests from a wide range of skeletal elements, allowing for prioritization based on DNA preservation. Large-scale collection of family reference samples has been conducted, resulting in a database of more than 100,000 family reference DNA profiles across all projects and delivering family DNA match reports for more than 20,000 individuals. From the 1995 Srebrenica event, ICMP provided DNA matches for 6887 of the ∼8000 missing from that event. In assistance to justice, ICMP has provided extensive evidence and expert testimony in multiple war crimes trials, including those conducted at the ICTY. This article provides an overview of ICMP's technical involvement over the last 17 years in areas of DNA testing and database matching, and training and capacity building projects with partners. It also touches on the development of massively parallel sequencing (MPS) strategies specifically tailored to missing persons applications.

Fichero 120: la base de datos de Perfiles de ADN del Instituto Nacional de Toxicología y Ciencias Forenses de personas afectadas por la sustracción de recién nacidos / File 120: The Database of DNA profiles from the National Institute of Toxicology and Forensic Sciences of people affected by the subtraction of newborns

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La identificación genética como herramienta en la investigación de adopciones irregulares y sustracción de recién nacidos en España: experiencia del Instituto Nacional de Toxicología y Ciencias Forenses (Departamento de Barcelona) / Genetic identification as a tool in research of irregular adoptions and abduction of newborns in Spain: National Institute of Toxicology and Forensic Science (Department of Barcelona) experience

Introducción. Los casos de adopciones irregulares y sustracción de recién nacidos en España han tenido una gran repercusión social, lo que ha conllevado la elaboración de reformas normativas y el desarrollo de guías y recomendaciones científicas que ayuden a su investigación. El objetivo del presente estudio fue la identificación genética de las muestras remitidas mediante estudios de parentesco. Material y métodos. Entre 2011-2014 se recibieron en el Departamento de Barcelona del Instituto Nacional de Toxicología y Ciencias Forenses 58 casos sobre los que se requirió judicialmente un estudio de identificación genética. Se analizaron restos óseos exhumados o muestras clínicas. Tras el estudio previo (antropológico y anatomopatológico) se procedió a la extracción del material genético y su posterior análisis. Resultados. La calidad y cantidad del ADN recuperado permitió el análisis genético en el 67,2% de los casos, frente al 32,8% donde no fue posible. Los datos muestran que mayoritariamente (87,2%) se estableció una relación de compatibilidad paterno-filial, siendo minoritarias las exclusiones (12,8%). El índice de verosimilitud osciló entre 1,75 × 104-5,95 × 1017 y los STR estudiados de 8-21. Conclusiones. Los datos y experiencia adquirida muestran la importancia de la recopilación de la información, de los antecedentes del caso y del estudio antropológico previamente al análisis genético. Esta información permite orientar los estudios genéticos y, ocasionalmente, ayuda a interpretar los resultados. Asimismo, las características de este tipo de muestras obligan a establecer un protocolo de calidad que garantice la autenticidad de los resultados finales (AU)

Introduction. Cases of irregular adoptions and abduction of newborns in Spain have had got a great social impact which has led to regulatory reforms and the implementation of scientific guidelines and recommendations to help their investigation. The objective of the study was the genetic identification of the samples submitted by kinship studies. Materials and methods. In the period between the year 2011 and 2014, the Barcelona Department of the National Institute of Toxicology and Forensic Sciences,received a total of 58 cases on which it was judicially required to carry out a study of genetic identification. Exhumed bones or clinical samples were analyzed. After previous study (anthropological, anatomo-pathological), the extraction of genetic material and its subsequent analysis were carried out. Results. The quality and the quantity of recovered DNA allowed carrying out genetic analysis in 67.2% of cases, compared to 32.8%, where it was not possible. The data show that for the majority ofthe cases studied (87.2%) was established a positive relationship, being minority the cases of exclusion (12.8%). The likelihood ratio (LR) obtained, ranged from 1.75 × 104-5.95 × 1017, and the STR markers studied from 8 to 21. Conclusions. Experience and data show the importance of gathering information, the history related to the caseand the importance of the anthropological study prior to genetic analysis. This information allows orienting the genetic studies and, in some cases, it helps to interpret the results. Also, the characteristics of this type of samples require establishing a quality protocol that ensures the authenticity of the final results (AU)

Ancestry informative markers: inference of ancestry in aged bone samples using an autosomal AIM-Indel multiplex.

Ancestry informative markers (AIMs) can be useful to infer ancestry proportions of the donors of forensic evidence. The probability of success typing degraded samples, such as human skeletal remains, is strongly influenced by the DNA fragment lengths that can be amplified and the presence of PCR inhibitors. Several AIM panels are available amongst the many forensic marker sets developed for genotyping degraded DNA. Using a 46 AIM Insertion Deletion (Indel) multiplex, we analyzed human skeletal remains of post mortem time ranging from 35 to 60 years from four different continents (Sub-Saharan Africa, South and Central America, East Asia and Europe) to ascertain the genetic ancestry components. Samples belonging to non-admixed individuals could be assigned to their corresponding continental group. For the remaining samples with admixed ancestry, it was possible to estimate the proportion of co-ancestry components from the four reference population groups. The 46 AIM Indel set was informative enough to efficiently estimate the proportion of ancestry even in samples yielding partial profiles, a frequent occurrence when analyzing inhibited and/or degraded DNA extracts.

O Banco de Perfis Genéticos Brasileiro Três Anos após a Lei nº 12.654 / The Brazilian Genetic Profile Database Three Years after Law No. 12.654

Apesar de bancos de perfis genéticos para persecução penal serem estabelecidos há cerca de vinte anos nos EUA e no Reino Unido, no Brasil, somente após a Lei n° 12.654/2012 passou‐se a admitir tal realidade. Indiscutivelmente, esta ferramenta contribui para a resolução de crimes. Entretanto, há muitas contradições legais e bioéticas sobre a coleta, a estocagem e a utilização de dados genéticos, pois há a possibilidade de uma aplicação acrítica dos avanços biotecnológicos. Propõe‐se apresentar o desenvolvimento histórico dos bancos de perfis genéticos, além de discutir as principais contradições legais e bioéticas sobre o uso da informação genética com fins criminais. Concluindo que o armazenamento destas informações deve sempre estar submetido à legislação específica, desenvolvida e aplicada com proporcionalidade. Além disso, tais normatizações devem ser calçadas por uma discussão bioética firmada na precaução e na responsabilidade (AU)

Although genetic profiles database for criminal prosecution are established for some twenty years in the U.S. and the UK, in Brazil, only after the Law No. 12,654/2012 happened to admit this reality. Undoubtedly, this tool helps to solve crimes. However, there are many legal and bioethical contradictions about the collection, storage and use of genetic data, because there is the possibility of an uncritical application of biotechnological advances. It was proposed to present the historical development of genetic profiles database, in addition to discussing major legal and bioethical contradictions about the use of genetic information for criminal purposes. Concluding that the storage of this information must always be subjected to specific legislation developed and applied with proportionality. Moreover, such norms shall be cushioned by a bioethical discussion grounded in caution and responsibility (AU)

Datos genéticos poblacionales de 15 marcadores tipo «short tandem repeats» empleados en las pruebas de paternidad e identificación de individuos por genética forense en el área metropolitana de la región centro de México / Population genetic data for 15 markers kind of short tandem repeats used in paternity testing and individual identification by forensic genetic in the metropolitan area from central region of Mexico

Introducción: Actualmente en México se ha incrementado el uso de marcadores del tipo «short tandem repeats» en la práctica forense para la identificación de individuos debido a su excelente poder discriminativo y a su uso extendido en los laboratorios de todo el mundo. Objetivo: El objetivo de este trabajo fue profundizar en el conocimiento de la frecuencia de los alelos pertenecientes a los marcadores D8S1179, D21S11, D7S820, CSF1PO, D3S1358, THO1, D13S17, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 y FGA en la población del área metropolitana de la región centro de México. Material y métodos: Las frecuencias alélicas fueron obtenidas a partir de una muestra de 300 individuos sanos y no relacionados entre sí. Los datos fueron analizados estadísticamente. Resultados y conclusiones: Todos los loci se encuentran en equilibrio de Hardy-Weinberg y muestran un poder de discriminación de 0,999999999. Los resultados contribuyen a establecer una base de datos representativa de las frecuencias alélicas característica de la región y muestran la heterogeneidad genética que existe entre las distintas poblaciones latinoamericanas (AU)

Introduction: Nowadays in Mexico the use of short tandem repeats has increased in Forensic practice for individual identification, due to its excellent discriminative power and its widespread use in laboratories around the world. Objective: The aim of this research work was to delve into the knowledge of allelic frequencies from markers such as D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA in the metropolitan area in the central region of Mexico. Material and methods: A study about the allelic frequencies obtained from 300 healthy and unrelated individuals was developed. Data were analyzed statistically. Results and conclusions: The combined power of discrimination was 0.999999999. All loci are in Hardy-Weinberg equilibrium, and show high discrimination for paternity analysis and forensic genetic applications. Results contribute to establishing a representative database of genome admixture in the region, and show the marked genetic heterogeneity that characterizes Latin American populations (AU)

Testing the effectiveness of an international conservation agreement: marketplace forensics and CITES caviar trade regulation.

BACKGROUND: The international wildlife trade is a key threat to biodiversity. Temporal genetic marketplace monitoring can determine if wildlife trade regulation efforts such as the Convention on International Trade in Endangered Species (CITES) are succeeding. Protected under CITES effective 1997, sturgeons and paddlefishes, the producers of black caviar, are flagship CITES species. METHODOLOGY/PRINCIPAL FINDINGS: We test whether CITES has limited the amount of fraudulent black caviar reaching the marketplace. Using mitochondrial DNA-based methods, we compare mislabeling in caviar and meat purchased in the New York City area pre and post CITES listing. Our recent sampling of this market reveals a decrease in mislabeled caviar (2006-2008; 10%; n = 90) compared to pre-CITES implementation (1995-1996; 19%; n = 95). Mislabeled caviar was found only in online purchase (n = 49 online/41 retail). CONCLUSIONS/SIGNIFICANCE: Stricter controls on importing and exporting as per CITES policies may be having a positive conservation effect by limiting the amount of fraudulent caviar reaching the marketplace. Sturgeons and paddlefishes remain a conservation priority, however, due to continued overfishing and habitat degradation. Other marine and aquatic species stand to benefit from the international trade regulation that can result from CITES listing.

Popular press and forensic genetics in Portugal: expectations and disappointments regarding two cases of missing children.

Two cases of missing children in Portugal (Joana and Maddie) have recently highlighted the dilemmas and contingencies associated with the technology of "genetic fingerprinting" for forensic purposes in the context of criminal investigations. The purpose of this article is to analyze the popular press's discourses and representations around forensic genetics in the context of those two highly mediatized criminal investigation cases. The symbolical construction and representation of forensic genetics by the media presents a form of public exposure to beliefs on forensic genetics' characteristics and potential. These are blended with popular cultural contexts that are constructed with reference to images of a super-science which may carry consequences in the public understanding of forensic science. The media coverage of both cases and their actual disclosure resembles the patterns ofa CSI effect, insofar as real science's capabilities and limitations are placed against fictionalized representations of forensic science.

[Application of molecular-genetic technologies for the identification of Russian citizens killed in Thailand during tsunami (II): too early to draw the line?].

The Federal State Institution "Russian Centre of Forensic Medical Expertise", Russian Health and Social Development Agency (Roszdrav), carries out forensic medical and molecular-genetic investigations with the purpose of identifying remains of Russian citizens allegedly killed (officially regarded as unaccounted-for) during the recent Thailand's tsunami. The last of the identified Russian subjects was a child from the B---lovs family missed in the disaster area. The child's parents were the last Russians whose fate thus far remained unknown: they were not reported as survivors, nor were their remains found and identified in the course of forensic medical expert investigations. The matter was considered settled. However, this conclusion proved premature. In what follows, we provide arguments that convinced us of the necessity to turn to this issue again and continue the identification studies. As a result of renewed examination, we managed to identify one more of the missed subjects (the child's father). Scientific and technical aspects of the above work that made it possible to reconsider earlier findings and obtain new information are discussed. Special emphasis is laid on the value of molecular-genetic identification of personality as a method of evidence-based forensic medical examination.

[Approaches to setting up the Center for identification of exhumed bodies in Chechen Republic].

The authors participated in the activity of a group of European experts who visited Moscow, Rostov-on-Don and Grozny in September 2005 to clarify situation with identification of exhumed unknown dead bodies of the civil population. The European experts recommend to set up Center for Identification in Chechen Republic (in Grozny). The authors propose to make DNA identification tests in the Russian Federation Center for Forensic Medical Evaluation in Moscow which has much experience and staff skilled in identification of unknown exhumed bodies and can solve the problem of genetic identification of unidentified bodies of people missed in the Chechen Republic more effectively.