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- 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.
- Insertion/Delection Polymorphism and forensic aplications: A preliminary studyPublication . Vieira Da Silva, Cláudia; Matos, Sara; Amorim, António; Afonso Costa, Heloísa; Morais, Paulo; Santos, Rodolfo; Espinheira, Rosa; Santos, J. CostaThe human genetic identification is usually based on the study of STR markers, robust and reliable for samples containing relatively small quantities of DNA. Recent advances in forensic genetics have focused on the development of genotyping assays using shorter amplicons, in order to improve the successful amplification of degraded samples. Single Nucleotide Polymorphisms (SNP) and Insertion/Deletion polymorphisms (INDEL), length polymorphisms created by insertions or deletions of one or more nucleotides in the genome, have considerable potential in this kind of forensic samples, usually present in identification casework, since they can combine desirable characteristics of both, STR and SNP. In this study, a set of 30 biallelic Deletion/Insertion polymorphisms (DIP or INDEL) distributed over 19 autosomes plus Amelogenin in a single multiplex PCR reaction was applied to 100 healthy and unrelated caucasian individuals. Statistical analysis revealed that the 30 biallelic markers can provide satisfactory levels of informativeness for forensic demands.
- Psychopathology of aggressors in intimate partner violencePublication . Leitão, Catarina; Graça, Olindina; Vieira, Fernando; Costa Santos, JorgeDespite the decreasing of the overall crime in Portugal indicated by official statistics, the same is not true with domestic violence. Most interventions are directed towards the treatment and support of victims, so therefore, there is a very short knowledge about the characteristics of aggressors, both in the context of domestic violence, as in intimate relationships in particular, especially with regard to the existence of psychopathology or mental illness. This work aims to identify mental disorders (personality disorders or mental illness) associated with such conduct, with respect to the aggressor. A research was performed in the PubMed, PsycINFO and Index databases and nineteen expert reports of aggressors, in the context of domestic violence conducted in the Clinical Forensic South Delegation of the National Institute of Legal Medicine and Forensic Sciences, were analyzed. The majority of these cases fulfills the diagnostic criteria for personality disorder, the most prevalent being the borderline type, or has a high rating in certain pathological traits.Therefore, it seems important to develop domestic violence prevention programs, including signaling and an assessment of the aggressors at the earliest possible stage, followed by a specialized intervention aimed at their rehabilitation and prevention of violent behavior.
- Population Genetic Data for F13A01, FES/FPS, F13B and LPL in the South Portuguese PopulationPublication . Vieira da Silva, Cláudia; Amorim, António; Afonso Costa, Heloísa; Espinheira, Rosa; Costa Santos, JorgeDNA parentage testing is currently performed using several highly polymorphic short tandem repeats (STRs). In our routine casework, we apply two validated STRs kits, in order to have results in the 13 codis loci plus D2S1338, D19S433, PENTA E, PENTA D, and Amelogenin. In complex and deficient paternity cases it is often necessary to increment the number of studied STRs. For this reason, we introduced in our laboratory GenePrint® FFFL Multiplex kit, which can provide results in F13A1, FES/FPS, F13B, and LPL using the GenePrint® FFFL System (Promega, USA) kit. In this study, we analyzed 150 unrelated and healthy individuals from the south Portugal population. Allele frequencies and statistical parameters were estimated with Arlequin 3.5.1.2. Paternity Statistics were calculated using software package PowerStats v12. The forensic efficiency values suggested that loci F13A01, FES/FPS, F13B, and LPL are discriminative and very useful to solve complex forensic casework, and should be added to the set of STRs loci routinely used in Forensic laboratories. In conclusion, an additional 4 loci dataset was established for the south Portuguese population, which can be used for both forensic casework and complex kinship testing
- Particular physical characteristics – a clinical case of Van der Woude Syndrome (poster)Publication . Costa Lopes, Miguel; Gallo, Filipa; Costa Santos, Jorge
- Uma década de neonaticídios na Grande LisboaPublication . Câmara, Catarina Klut; Graça, Olindina; Costa, Tiago; Costa Santos, JorgeO neonaticídio corresponde ao homicídio de uma criança durante as primeiras 24 horas de vida. Neste trabalho procurou-se caracterizar casos de neonaticídio ocorridos na área da Grande Lisboa, através de um estudo retrospetivo de todos os processos investigados na Delegação do Sul do Instituto Nacional de Medicina Legal e Ciências Forenses, I.P. (INMLCF), entre 1 de janeiro de 2001 e 31 de dezembro de 2010. Identificaram-se cinco casos de neonaticídio (2.96 por 100000 nados-vivos), atribuíveis a cinco mães com uma idade média de 25 anos, cuja principal motivação foi a gravidez indesejada. Em todos os casos, a gravidez foi ocultada, evoluiu sem cuidados médicos pré-natais e o parto ocorreu em casa, sem assistência. Não foi identificada qualquer perturbação mental que verificasse os requisitos normativos de inimputabilidade para o crime. Embora raros, os casos de neonaticídio causam particular alarme social e levantam diversas questões jurídicas e médicolegais. O facto de se encontrarem associados à ocultação da gravidez e à ausência de perturbação mental evidente das suas autoras, dificulta a adoção de medidas preventivas, destacando-se a importância de um diagnóstico precoce de gravidez em mulheres em idade fértil.
- A decade of neonaticides in the greater Lisbon areaPublication . Câmara, Catarina Klut; Graça, Olindina; Costa, Tiago; Costa Santos, JorgeNeonaticide is the homicide of a child by a parent during the first 24 hours of life. The goal of this paper is to characterize cases of neonaticide that have occurred in the Great Lisbon area. The clinical files of all neonaticide cases that were studied at the Delegação do Sul, Instituto Nacional de Medicina Legal e Ciências Forenses (INMLCF, IP), between January, 1st 2001 and December 31st 2010 were reviewed and analyzed. Five cases of neonaticide were identified (2.96 per 100000 live births), perpetrated by five mothers with an average age of 25 years, whose main motivation was unwanted pregnancy. The pregnancies were concealed, no pre-natal care was obtained and delivery was unassisted and occurred at home. There were no cases of mental disorders that could justify, under a medico-legal point of view, a decision of not guilty by reason of insanity. Although rare, neonaticide cases affect societies and raise forensic questions. Due to its lower association with major psychopathology, low careseeking behavior, opportunities for prevention are reduced. Therefore, the early detection of pregnancy in women of fertile age may provide a valuable chance to offer the required support.
- Psicopatologia dos agressores nas relações de IntimidadePublication . Leitão, Catarina; Graça, Olindina; Vieira, Fernando; Costa Santos, JorgeApesar das estatísticas oficiais indicarem a diminuição da criminalidade, em geral, em Portugal, o mesmo não acontece com violência doméstica. A maioria das intervenções está dirigida para o apoio e tratamento das vítimas, pelo que pouco se sabe ainda sobre as características dos agressores, tanto no contexto da violência doméstica, como nas relações de intimidade em particular, nomeadamente no que diz respeito à existência de psicopatologia ou doenças mentais. Este trabalho tem por objetivo identificar perturbações mentais (distúrbios da personalidade ou doenças mentais) associadas a tais condutas, no que ao agressor diz respeito. Foi realizada uma pesquisa nas bases de dados PubMed, PsycINFO e Index e analisados dezanove relatórios periciais de agressores em contexto de violência doméstica realizados no Serviço de Clínica Forense da Delegação do Sul do Instituto Nacional de Medicina Legal e Ciências Forenses. A maioria dos casos preenche critérios de diagnóstico para perturbação da personalidade, sendo o tipo borderline o mais prevalente, ou tem uma cotação elevada em determinados traços patológicos da personalidade. Parece pois importante o desenvolvimento de programas de prevenção da violência doméstica, que incluam a sinalização e uma avaliação tão precoces quanto possível dos agressores, a que se seguiria uma intervenção especializada visando a sua reabilitação e prevenção de comportamentos violentos.
- 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.
- Forensic Genetics as a Tool for Peace and Justice: An Overview on DNA QuantificationPublication . Vieira Da Silva, Cláudia; Afonso Costa, Heloísa; Costa Santos, J.; Espinheira, RosaIn Forensic Genetics, DNA analysis is performed to obtain a Short Tandem Repeat (STR) profile from an evidence sample, which is then compared with the victim and suspect(s) reference sample STR profile, to determine their contribution to that evidence sample. However, forensic biological samples can be present in low quantities and be exposed to different environmental insults leading to DNA degradation and contamination by inhibitor compounds. Thus, it is desirable for a forensic scientist to have useful information about the forensic sample quantity and quality prior to STR amplification. New methods in Forensic DNA analysis for detecting, preserving, and quantifying DNA, as well as its recovery from different biological materials are continually being developed. Real-Time PCR (RT-PCR) assays for DNA quantification, like the recent Quantifiler® Duo DNA quantification kit (Applied Biosystems) proved to be very useful in forensic samples. Since many samples, mainly those resulting from sexual assault cases are often composed by unbalanced male/female DNA mixtures, the knew RT-PCR quantification assay, developed to quantify relative male/ female DNA ratio contributes not only to total DNA determination but also to ascertain the presence and quantity of enough male DNA in the sample. These results are important to guide the optimal STR analysis selection, such as autosomal STR, Y-STR, or mini-STR, increasing downstream analysis success rates. In this work we present real forensic casework where the DNA amount and quality were important to guide the selection of the appropriate STR amplification kit in order to increase the success of profiling in the first attempt, reducing the number of samples that need to be reprocessed and thereby decreasing the turn around time in a forensic laboratory.