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- Mitochondrial DNA data of Cabo Verde Immigrant Population Living in LisboaPublication . Afonso Costa, Heloísa; Morais, P.; Amorim, António; Vieira da Silva, Cláudia; Matos, S.; Marques Santos, R.; Espinheira, R.; Costa Santos, J.Mitochondrial DNA (mtDNA) analysis found an important role in forensic genetics, especially when nuclear DNA analysis does not give a conclusive response. It is a powerful tool to exclude samples as originating from the same matriline. Features that increase the vested interest of mtDNA are the high copy number per cell, maternal inheritance, absence of recombination, and high mutation rate. Due to the higher overall mutation rate, the control region is comparatively enriched in sequence variation and therefore its analysis is important to establish haplotypes and haplogroups. Haplogroup assignment became noteworthy to clarify the history and demographic past of a population. As well as occurring all over Europe, in Portugal, and particularly in Lisboa, immigrant populations are increasing. The Instituto Nacional de Medicina Legal e Ciências Forenses is carrying out a comprehensive genetic study with the aim of portraying the genetic diversity of the immigrants who live in Lisboa. Within that objective, the present study intends to: obtain the mtDNA variability of Cabo Verde Immigrant Population Living in Lisboa and classify haplotypes into haplogroups. The studied population shows great interpopulation genetic variability due to the high frequency of unique haplotypes. Cabo Verde immigrants living in Lisboa exhibit haplotypes that belong to haplogroups observed in native Africans and in West Eurasian. MtDNA control region typing is extremely useful as a technique to differentiate among degraded samples frequently found in forensic genetics and to establish its global frequency when having knowledge of the genetic structure of populations.
- Usefulness of Powerplex® Fusion System as typing methodology of Codis and ESS genetic markers in a immigrant population from Cabo Verde in LisboaPublication . Resende, Ana; Amorim, António; Vieira da Silva, Cláudia; Ribeiro, Teresa; Maria João Porto; Costa Santos, Jorge; Afonso Costa, HeloísaCabo Verde is an archipelago located on the West African coast. It was discovered in 1460 by Portuguese explorers and it was colonized by them and by Africans. Culturally, Cabo Verde is characterized by an admixture of European and African origin elements, being one of the countries with the highest number of emigrants in Portugal. PowerPlex® Fusion System kit (Promega Corporation) consists of a multiplex that amplifies 24 loci (D3S1358, D1S1656, D2S441, D10S1248, D13S317, Penta E, D16S539, D18S51, D2S1338, CSF1PO, Penta D, TH01, VWA, D21S11, D7S820, D5S818, TPOX, D8S1179, D12S391, D19S433, FGA, D22S1045, DYS391 and Amelogenin) in a single PCR reaction. These genetic markers include all Short Tandem Repeats (STRs) encompassed in the Combined DNA Index System (CODIS) and in the European Standard Set (ESS). In order to implement or modify technologies for forensic DNA analysis there are two types of validation required: developmental and internal. The developmental validation studies accuracy, reproducibility and precision of the procedure by the manufacturer, and it should precede the use of this novel methodology for forensic DNA analysis. Internal validation is performed by each laboratory of forensic DNA analysis to demonstrate that established method and procedure perform as expected in the laboratory. Parameters such as final volume of PCR reaction, DNA concentration range, stutter peaks ratio and heterozygote peak height ratios, were determined. Beyond the method implementation, one of the aims of this work is sample costs-saving by the laboratory maintaining the quality of the obtained results.
- Study of Indel genetic markers with forensic interest and ancestry informative power in PALOP’s immigrant populations in Lisboa - preliminary resultsPublication . Inácio, Ana; Afonso Costa, Heloísa; Vieira da Silva, Cláudia; Ribeiro, Teresa; Porto, Maria João; Costa Santos, Jorge; Igrejas, Gilberto; Amorim, AntónioThe increasing number of immigrants in Portugal is an unavoidable reality. According to Portugal Contemporary Base - PORDATA -, by the end of 2013, the foreign population living in Portugal was about 398.268, i.e., about 4% of the total population. The total number of immigrants from Portuguese-speaking African countries (PALOP) was about 100.800, from which 20.000 were from Angola, 42.000 from Cabo Verde, 176.600 from Guiné-Bissau, 2.850 from Moçambique and 10.170 from São Tomé e Príncipe. From those 100.800, about 75.000 are part of Lisboa population. The migratory phenomenon in Portugal can be one of the main factors for the genetic variability. In the last years, a new class of autosomal insertion/deletion markers - InDel -, has gained interest in forensic genetics. They are characterized by the presence or absence of a specific sequence of nucleotides. Significative differences in allele frequencies of InDel markers, between different groups or populations, can be used as evolutionary and ancestry indicators. Since there is few data for InDel markers of PALOP immigrants living in Lisboa, our aim is to characterize those groups of individuals by typing them with, at least, 30 markers and compare different groups of individuals/populations.
- Y SNPs Genetic Variation in the Caucasian Population Living in Southern PortugalPublication . Gaudêncio, Sara; Afonso Costa, Heloísa; Amorim, António; Ribeiro, Teresa; Maria João Porto; Costa Santos, Jorge; Vieira da Silva, CláudiaThe Y chromosome has unique characteristics, namely the genetic non recombination and the direct father/ son transmission. Binary polymorphisms located on the non recombining portion of the human Y chromosome (Y SNPs) have been widely used for characterizing and classifying paternal lineages in various fields such as genealogy, anthropology and forensics. In anthropological context, Y SNPs have importance for ancestry analysis, allowing the study of migration phenomena and also human evolution history reconstruction. The application of these markers in biogeographical studies implies the characterization of haplogroups with different markers, according to geographic region under study In this research was selected a set of 9 Y SNPs 92 R 7 M 70 M 22 Tat, P 25 SRY 1532 M 173 M 213 M 9 that determine the most frequent haplogroups in European populations.
- Human identification with combined anthropologic and genetic tools: two case reports in forensic medicine practicePublication . Amorim, António; Afonso Costa, Heloísa; Espinheira, Rosa; Costa, Rosa; Cunha, Eugénia; Costa Santos, JorgeThe identification of skeletonized corpses or skeletal remains, in forensic medicine practice, as well as being an imperative to human rights respect, has particular relevance and significance in psycho-social terms. If, on one hand, the Universal Declaration of Human Rights advises identification before all body inhumations, on the other hand, returning the identity to an unidentified corpse and subsequent return of the corpse to his family is, itself, the instrument which will allow for the possibility of beginning the family grieving. Forensic anthropology is the first approach towards the identification of unknown skeletonized corpses, which may lead to positive identification of the body or, sometimes, cannot go further than establish some pointers that will lead to further attempt to genetic identification. Here we report two cases of two dead bodies, unidentified, that were presented to the National Institute of Legal Medicine (INML), with instructions, from the prosecutors, to be determined possible cause and circumstances of death and achieve to individual identification. Forensic anthropology, allowed, in both cases, some indications that pointed to alleged missing individuals. Genetic study of skeletonized bodies and family members of the alleged missing individuals has turned possible, in one case, the positive identification. For one of the corpses, most likely due to the weather conditions to which he was exposed for a very considerable period, it was not possible to achieve to positive identification. However, in the latter case, we believe that the use of mitochondrial DNA study may help to settle the case with positive identification of the corps.
- 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.
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