Percorrer por autor "Dario, Paulo"
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- Analysis of 17 STR data on 5362 southern Portuguese individuals—an update on reference databasePublication . Silva, Raquel Cabezas; Ribeiro, Teresa; Lucas, Isabel; Porto, Maria João; Santos, Jorge Costa; Dario, PauloThe main objective of this work consisted of the updating of allele frequencies and other relevant forensic parameters for the 17 autosomal STR loci provided by the combination of the two types of kits used routinely in our laboratory casework: AmpF/STR Identifiler® and the Powerplex® 16 Systems. This aim was of significant importance, given that the last study on these kits within the southern Portuguese population dates back to 2006, and, as a consequence, it was necessary to correct the deviation caused by population evolution over the last ten years so that they might be better applied to our forensic casework. For this reason genetic data from 5362 unrelated Caucasian Portuguese individuals from the south of Portugal who were involved in paternity testing casework from 2005 to 2014 was used. Of all the markers, TPOX proved to be the least polymorphic, and Penta E the most. Secondly, this up-to-date southern Portuguese population was compared not only with the northern and central Portuguese populations, but also with that of southern Portugal in 2006, along with populations from Spain, Italy, Greece, Romania, Morocco, Angola and Korea in order to infer information about the relatedness of these respective populations, and the variation of the southern Portuguese population over time.
- Analysis of 17 STR data on 5362 southern Portuguese individuals-an update on reference databasePublication . Cabezas Silva, Raquel; Ribeiro, Teresa; Lucas, Isabel; Porto, Maria João; Costa Santos, Jorge; Dario, PauloThe main objective of this work consisted of the updating of allele frequencies and other relevant forensic parameters for the 17 autosomal STR loci provided by the combination of the two types of kits used routinely in our laboratory casework: AmpF/STR Identifiler(®) and the Powerplex(®) 16 Systems. This aim was of significant importance, given that the last study on these kits within the southern Portuguese population dates back to 2006, and, as a consequence, it was necessary to correct the deviation caused by population evolution over the last ten years so that they might be better applied to our forensic casework. For this reason genetic data from 5362 unrelated Caucasian Portuguese individuals from the south of Portugal who were involved in paternity testing casework from 2005 to 2014 was used. Of all the markers, TPOX proved to be the least polymorphic, and Penta E the most. Secondly, this up-to-date southern Portuguese population was compared not only with the northern and central Portuguese populations, but also with that of southern Portugal in 2006, along with populations from Spain, Italy, Greece, Romania, Morocco, Angola and Korea in order to infer information about the relatedness of these respective populations, and the variation of the southern Portuguese population over time.
- Analysis of NGM STR loci in South Portuguese PopulationPublication . Ribeiro, Teresa; Dario, Paulo; Vital, Nádia; Sanches, Susana; Espinheira, Rosa; Geada, Helena; Costa Santos, JorgeAllele frequencies and other relevant forensic parameters of 15 loci studied with Applied Biosystems AmpFlSTRs NGM Kit were calculated in a population of individuals residing in the South of Portugal. Blood stain samples were obtained from a total of 350 unrelated individuals involved in paternity testing casework. This new kit has five loci not present in any other kit used in our laboratory (Promega Powerplex 16 System and Applied Biosystems Identifiler Plus): D10S1248, D22S1045, D2S441, D1S1656 and D12S391. The NGM multiplex kit is used in our forensic casework as an auxiliary screening tool to solve deficient casework such as fatherless paternity testing, and to help in paternity investigations with one genetic incompatibility after the routine seventeen loci typing. Furthermore, this five loci included in the European Standard Set are also recommended by the European Network of Forensic Science Institutes (ENFSI) and the European DNA Profiling group (EDNAP). These studies are necessary to calculate statistical forensic parameters such as power of discrimination, power of exclusion or minimum allele frequencies. Statistical parameters such as heterozigoty, homozigoty or allele frequencies were determined with Arlequim V3.5 and results compared with the ones reported in previous similar studies. As final remark, is important to remember that this kind of study is highly important for the Forensic Laboratories accreditation achievement
- Assessment of IrisPlex-based multiplex for eye and skin color prediction with application to a Portuguese populationPublication . Dario, Paulo; Mouriño, Helena; Oliveira, Ana Rita; Lucas, Isabel; Ribeiro, Teresa; Porto, Maria João; Santos, Jorge Costa; Dias, Deodália; Real, Francisco Corte"DNA phenotyping research is one of the most emergent areas of forensic genetics. Predictions of externally visible characteristics are possible through analysis of single nucleotide polymorphisms. These tools can provide police with “intelligence” in cases where there are no obvious suspects and unknown biological samples found at the crime scene do not result in any criminal DNA database hits. IrisPlex, an eye color prediction assay, revealed high prediction rates for blue and brown eye color in European populations. However, this is less predictive in some non-European populations, probably due to admixing. When compared to other European countries, Portugal has a relatively admixed population, resulting from a genetic influx derived from its proximity to and historical relations with numerous African territories. The aim of this work was to evaluate the utility of IrisPlex in the Portuguese population. Furthermore, the possibility of supplementing this multiplex with additional markers to also achieve skin color prediction within this population was evaluated. For that, IrisPlex was augmented with additional SNP loci. Eye and skin color prediction was estimated using the multinomial logistic regression and binomial logistic regression models, respectively. The results demonstrated eye color prediction accuracies of the IrisPlex system of 90 and 60 % for brown and blue eye color, respectively, and 77 % for intermediate eye color, after allele frequency adjustment. With regard to skin color, it was possible to achieve a prediction accuracy of 93 %. In the future, phenotypic determination multiplexes must include additional loci to permit skin color prediction as presented in this study as this can be an advantageous tool for forensic investigation."
- Characterization of GlobalFiler loci in Angolan and Guinean populations inhabiting Southern PortugalPublication . Guerreiro, Soraia; Ribeiro, Teresa; Porto, Maria João; Carneiro De Sousa Pinto Costa, Maria José; Dario, PauloWe analyzed the GlobalFiler short tandem repeat (STR) loci for 152 and 70 unrelated individuals from Angolan and Guinean immigrant populations inhabiting Southern Portugal, respectively. After Bonferroni correction, no significant deviations from the Hardy-Weinberg equilibrium and linkage disequilibrium were detected for either population. For the Angolan population, SE33 was the most informative marker. In contrast, D5S818 and D13S317 were the least informative loci. The combined power of discrimination was 99.9999999999999999999999961907%. For the Guinean population, SE33 and D21S1 were the most informative loci, while D13S317 was the least. The combined power of discrimination was 99.99999999999999999999997915%. No significant differences were observed between Angolan, Guinean, and Afro-American populations for any of the analyzed STRs. The South African population presented significant differences at D22S1045 and D10S1248 when compared to Angola, and at D22S1045 when compared to Guinea-Bissau. The MDS plot and neighbor-joining tree analysis revealed that Angolan and Guinean populations are genetically close to African-American and South African populations, and genetically different from Korean, Mexican, European (including American-Caucasian), and Middle Eastern populations.
- Contribuição do Y-DNA na identificação de agressoresPublication . Vieira da Silva, Cláudia; Dario, Paulo; Ribeiro, Teresa; Lucas, Isabel; Cruz, C.; Espinheira, R.Os loci do cromossoma Y (Y-STRs) têm sido extensivamente investigados em ciências forenses para identificação de indivíduos do sexo masculino. A aplicação dos Y-STRs, simplifica a análise de misturas, por apenas permitir a amplificação do material genético masculino do s vestígios biológicos. “Y-STR testing” tem sido considerada uma ferramenta adicional valiosa em casos que envolvem misturas de grandes quantidades de DNA feminino com pequenas quantidades de DNA masculino ou/e em casos de múltiplos dadores de sémen. A aplicação dos Y-STRs em análises de misturas evita a necessidade de realizar uma extracção diferencial de esperma e de células epiteliais. Estes procedimentos de extracção têm um valor limitado em amostras com contribuições masculino/feminino desbalanceadas ou em restos de fluidos biológicos sem espermatozóides.Apesar do baixo poder de discriminação dos Y-STRs e de todos os indivíduos da mesma linha paterna, neste estudo ficou demonstrado que em casos forenses a análise dos Y-STRs é indispensável devido à especificidade de amplificação genética da componente masculina de uma amostra biológica. Em alguns casos em que a quantidade de material masculino é insuficiente para ser detectado um perfil completo com os sistemas do haplotipo mínimo (9 loci), mesmo não sendo estes sistemas suficientes para afirmar que a amostra do suspeito coincide com a da vítima poderemos afirmar que um indivíduo pode ser excluído de ser contribuinte de algum vestígio biológico, se não existir existir coincidência entre alguma das características genéticas do suspeito e as características genéticas dos vestígios encontrados. Os resultados obtidos demonstram que todas as amostras dos casos de violação devem ser estudados com sistemas multiplex de grande sensibilidade de Y-STRs. A presença de Y-DNA constitui prova de contacto sexual sendo importante para corroborar o testemunho das vítimas de abuso sexual.
- Got her mummy´s eyes: Eye color investigation using IrisPlex – preliminary studyPublication . Dario, Paulo; Rita Olivera, Ana; Ribeiro, Teresa; Lucas, Isabel; Marques, Manuela; Porto, Maria João; Costa Santos, Jorge; Corte Real, F.; Dias, DeodáliaSNP phenotypic markers are being studied by several groups worldwide. As a result, phenotypic loci such as the ones responsible for human eye, hair and skin color are starting to get known. These may provide information for identification of unknown sample donors in criminal casework when there are no suspects. This kind of information may be even more relevant when the sample donor possesses phenotypic characteristics which distinguish him from the population in which he is inserted. Nevertheless, this approach may be used in similar scientific areas. In this work, a DNA sample from a mummified corpse with historical and scientific interest was studied in order to discover more information about who this corps belonged to. One of the tools used in this investigation was IrisPlex, designed for eye color prediction. This study presents one example on how this methodologies may be useful, not only in forensic investigation but also in areas such as physical anthropology.
- Identificação genética a partir de lâminasPublication . Ribeiro, Teresa; Vieira da Silva, Cláudia; Lucas, Isabel; Dario, Paulo; Geada, Helena; Espinheira, Rosa
- Imigração em Portugal: contributo dos polimorfismos genéticos para a investigação de parentesco entre supostos familiaresPublication . Carvalho, Mónica; Vieira Da Silva, Cláudia; Dourado, Catarina; Dario, Paulo; Reis, Fátima; Rodrigues, Diogo; Porto, Maria João; Ribeiro, TeresaA solicitação de investigações de parentesco inseridas em processos de imigração, nomeadamente os relacionados com indivíduos que pretendem obter títulos de residência em Portugal, têm vindo a aumentar nos últimos anos no Serviço de Genética e Biologia Forenses da Delegação do Sul (SGBF S) O problema levanta se quando existe um familiar que já reside em Portugal, o qual pretende que outros familiares venham a residir também em Portugal e são apresentados documentos cuja veracidade é posta em causa Neste trabalho, apresentamos um caso em que o Ministério Público pretende confirmar a relação de parentesco biológico existente entre um determinado indivíduo e os seus três filhos registrais do sexo masculino,sendo que apenas dois deles são filhos da mesma mulher
- Necessidade de exumação em investigação de paternidadePublication . Ribeiro, Teresa; Eiras, Luisa; Dario, Paulo; Lucas, Isabel; Vieira Da Silva, Cláudia; Espinheira, Rosa