INMLCF - Comunicações Científicas e Pósteres
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Browsing INMLCF - Comunicações Científicas e Pósteres by Field of Science and Technology (FOS) "Ciências Médicas::Outras Ciências Médicas"
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- Codis and the Portuguese DNA Database: Novel intersections between Biology, Medicine, Informatics, Mathematics, Engineering and LawPublication . Amorim, António; Afonso Costa, Heloísa; Gomes, Paulo Ferreira; Corte-Real, FranciscoAt the scope of criminal and forensic investigations, the criminal authorities, health professionals, and many other intervenients can obtain different kinds of samples with biological material. The study of those samples by DNA laboratories can lead to the achievement of genetic profiles. CODIS and similar informatic DNA databases, by storing and managing those genetic profiles, can aid at criminal investigation by linking perpetrators to biological evidence samples. The same way CODIS can aid at human civil identification by linking relatives of missing persons to biological evidence samples. Thus, these novel intersections between biology, medicine, informatics, mathematics, engineering and law can lead to the resolutions of different kinds of crimes as well as other forensic matters such as human civil identification or clarification of kinship relations.
- Cremação de cadáveres: considerações a propósito da eventual perda definitiva de informação genética individualPublication . Lima, António; Andrade Sampaio, Lisa; Cunha, Eugénia; Corte-Real, Francisco; Amorim, António
- Genetic characterization of the Brazilian immigrant population in Lisboa with InDel genetic markersPublication . Reis, Fátima; Vieira-Silva, Cláudia; Vieira Silva, Cláudia; Amorim, António; Bogas, Vanessa; Ribeiro, Teresa; Porto, Maria João; Afonso Costa, HeloísaMigration is one of the main factors for genetic variability within populations’. Currently, the Portuguese population, and particularly the population from Lisboa, welcomes a considerable number of immigrants. Brazilian immigrants are the main foreign community in Portugal, with about 80 000 individuals in 2015. Insertion/deletion polymorphisms - InDels -, are characterized by the presence or absence of small DNA sequences?. These variations constitute a group of genetic markers with advantages for forensic identification, especially in highly degraded biologic samples, due to the small size of the amplification fragments. Furthermore, InDels have lower mutation rates making them useful for complex cases of biological kinship
- Genétic portrait of 12 X-STR loci in Brasil immigrant population living in Lisbon (preliminary results)Publication . Afonso Costa, Heloísa; Amorim, António; Vieira Silva, Cláudia; Reis, Fátima; Ribeiro, Teresa; Porto. Maria João; Corte-Real, FranciscoTyping X-chromosome markers (ChrX) is important to complement the analysis of Y and autosomal (AS) short tandem repeats (STR). The main field of the ChrX is kinship investigations, especially investigations of mother/son, father/daughter and complex kinship tests. When the alleged father is not present, the ChrX investigation is more accurate because the mean exclusion chance of X-STRs in these cases is higher. ChrX markers testing also prove helpful for kinship tests in which only remote relatives are available for testing, particularly from the need to rejoin families in the context of war, mass disasters and world-wide migration. Since male family members are more likely to be affected by the consequences of socio-demographic unrest than females, and it may therefore be more difficult to obtain samples from them, ChrX marker testing could be a very useful tool. Immigrant populations contributes to increase social, cultural, religious, linguistic, anthropological and genetic heterogeneity in a population. According to the portuguese database PORDATA , in 2016, the number of immigrants from Brazil who have fixed residence in Portugal was 79,569. From those, up to 40.084 live in Lisboa and near cities. Consequently, we are therefore faced with a population reality completely different from the one at the early ninety’s of the last century. Before forensic application, it´s important to study population data and to construct reference databases to document the genetic variation of specific STR among worldwide populations. Population data is vital to quantify the evidentiary value of a match in forensic evaluation. The aims of this study were to calculate allele frequencies and create a population database for X-STR markers for Brazil natives, living in Lisboa for future use in forensic genetics practice.
- Genetic portrait of Lisboa immigrant population from MozambiquePublication . Proença de Campos, M.; Afonso Costa, Heloísa; Vieira-Silva, C.; Ribeiro, Teresa; Amorim, AntónioSince the end of the 1970s, Portugal had a role in the migratory movements, becoming a destiny for immigrants from a wide range of nationalities, especially from the African continent. According to statistical data, until the end of 2014, there were approximately 99 000 African immigrants living in Portugal. The Mozambican community is about 3 000 individuals, of which more than a half are currently living in Lisbon metropolitan region [1]. Mitochondrial DNA (mtDNA) is a useful tool, not only in evolutionary and population studies, but also in forensic genetics. Due to its unique features, including maternal inheritance, lack of recombination, high copy number and high mutation rate, mtDNA has been used to measure the genetic impact of human migration and also for human identity testing [2,3]. The analysis of mtDNA allows to trace the ancestral origin of each population, revealing the evolutionary history of maternal lineages across several generations. The aim of our study is the genetic characterization of Mozambican immigrants living in Lisbon, in order to emphasize their genetic contribution to Lisbon population. We also pretend to classify haplotypes into haplogroups and to compare this population with other African populations.
- The immigrant population from Mozambique in Lisbon: updated mitochondrial DNA portraitPublication . Proença de Campos, M.; Afonso Costa, Heloísa; Bogas, Vanessa; Vieira da Silva, Cláudia; Ribeiro, Teresa; Porto, Maria João; Amorim, AntónioSince the end of the 1970s Portugal had a role in the migratory movements, becoming a destiny for immigrants of a wide range of nationalities, especially from the African continent(1). According to statistical data, until the end of 2015, there were approximately 3000 Mozambican immigrants living in Portugal and from those, more than a half living in Lisbon metropolitan region. Mitochondrial DNA identical sequences are shared by matrilineal inheritance. Along with the lack of recombination, it enables to trace the ancestral origin of each population and its evolutionary history. However, not only in evolutionary and population studies but also in forensic genetics, mtDNA is an important tool(3,4). The aim of our study is the genetic characterization of Mozambican immigrants living in Lisbon in order to emphasize their genetic variability contribution to Lisbon population.
- Mitochondrial DNA characterization of Brazilian immigrant Population living in LisboaPublication . Marcelino, Miguel; Amorim, António; Corte-Real, Francisco; Afonso Costa, HeloísaMigration is one of the main factors for genetic variability within populations. Currently, the Portuguese population, and particularly the population from Lisboa, welcomes a considerable number of immigrants. Brazilian immigrants are the main foreign community in Portugal, with about 184 000 individuals in 2020. Mithocondrial DNA (mtDNA), due to its unique characteristics such as being exclusively maternal inheritance and suffering no recombination, which results in its slow evolution, is a useful genetic marker to study the evolution of populations. In this study mtDNA sequencing analyzis of 64 Brazilian immigrants who currently live in Lisbon were carried out in order to assess the impact of this population on the Portuguese gene pool. The mtDNA control region were amplified using two pairs of primers - L15971 / H016 and L16555 / H639. The amplified products were then sequenced using BigDye®Terminator v.3.1 Cycle Sequence (AB) and detected in the SeqStudio™ Genetic Analyzer (AB). The results were analysed with the Sequencing Analysis v7. and SeqScape v4. (AB) softwares, where the obtained sequences were compared with the rCRS in order to obtain haplotypes that, with Phylotree, build 17, can be converted in haplogroups.
- Mitochondrial DNA characterization of Guiné-Bissau immigrant population living in LisboaPublication . Amorim, António; Proença de Campos, M.; Ribeiro, Joana; Vieira-Silva, Cláudia; Ribeiro, Teresa; Porto, Maria João; Afonso Costa, HeloísaGuiné-Bissau, officially known as the Republic of Guiné-Bissau, is a country on the west coast of the African Continent. Colonized in the nineteenth century, Guiné-Bissau was the first Portuguese colony in Africa with independence recognized by Portugal. Before the arrival of Europeans and until the seventeenth century, almost all of the territory of Guiné-Bissau was part of the Kingdom of Gabu, part of the Mali Empire. In the late seventies, migration flows, related to the post-colonial phase, led to Guinean community became the sixth largest immigrant community in Portugal. Most of those immigrants are based in Lisboa metropolitan region. Those individuals have contributed to increased heterogeneity in social, cultural, religious, linguistic and anthropological frame in Portugal. In recent decades the mtDNA became an important genetic marker in human population studies as well as in forensic studies. The interest in the analysis of mtDNA is explained by the characteristics of the molecule, as high copy number per cell in the same individual, maternal inheritance, absence of recombination and high mutation rate. Therefore, unlike nuclear DNA, mtDNA does not get shuffled every generation, so it is presumed to change at a slower rate, which is useful for the study of human evolution. The main goal of our study was to determine the haplotypes and respective haplogroups of Guineans individuals living in Lisboa, to be possible to obtain the mtDNA genetic structure of the population under study and evaluate the impact of immigrant individuals in the Lisboa region.
- mtDNA study of Guiné-Bissau immigrant population living in LisbonPublication . Amorim, António; Ribeiro, Joana; Proença de Campos, M.; Vieira-Silva, Cláudia; Bogas, Vanessa; Ribeiro, Teresa; Porto, Maria João; Afonso Costa, Heloisa; Afonso Costa, HeloísaGuiné-Bissau, officially known as the Republic of Guiné-Bissau, is a country on the west coast of the African Continent. Colonized in the nineteenth century, Guiné-Bissau was the first Portuguese colony in Africa with independence recognized by Portugal. Before the arrival of Europeans and until the seventeenth century, almost all of the territory of Guiné-Bissau was part of the Kingdom of Gabu, part of the Mali Empire. In the late seventies, migration flows, related to the post-colonial phase, led to Guinean community became the sixth largest immigrant community in Portugal. Most of those immigrants are based in Lisboa metropolitan region. Those individuals have contributed to increased heterogeneity in social, cultural, religious, linguistic and anthropological frame in Portugal. In recent decades the mtDNA became an important genetic marker in human population studies as well as in forensic studies. The interest in the analysis of mtDNA is explained by the characteristics of the molecule, as high copy number per cell in the same individual, maternal inheritance, absence of recombination and high mutation rate. Therefore, unlike nuclear DNA, mtDNA does not get shuffled every generation, so it is presumed to change at a slower rate, which is useful for the study of human evolution. The main goal of our study was to determine the haplotypes and respective haplogroups of Guineans individuals living in Lisboa, to be possible to obtain the mtDNA genetic structure of the population under study and evaluate the impact of immigrant individuals in the Lisboa region.
- Perícias de Identificação Individual: dificuldades, obstáculos e soluções para reduzir o tempo pericialPublication . Ferreira da Silva, Benedita; Pereira, Maria João; Cerqueira, Joana; Pontes, Lurdes; Amorim, AntónioAs perícias de Identificação Individual (II) no SGBF referem-se a processos que visam determinar a identificação de cadáveres, restos cadavéricos, fetos, ou confirmação de identidade de amostras biológicas, recorrendo à análise de ADN. A identificação genética pode ser efetuada por comparação direta, recorrendo a amostras colhidas antemortem e objetos pessoais, ou de forma indireta, por comparação genética com supostos familiares, através de valorização estatística considerando o grau de parentesco avaliado. O período que os supostos familiares aguardam para a confirmação da identidade do cadáver reveste-se de grande ansiedade e dor, pelo que se determinou que as II deveriam ser concluídas entre 3 a 10 dias, dependendo das amostras analisadas. Dependendo do estado de conservação do cadáver a identificar, pode não ser possível a obtenção de perfis genéticos valorizáveis, comprometendo a identificação. Desta forma, a colheita de amostras biológicas, pelo perito médico, deve ser muito criteriosa, para o SGBF dispor de amostragem suficiente e variada, que permita ultrapassar quaisquer obstáculos à conclusão da perícia. Este trabalho propõe uma orientação do tipo de amostras que devem ser colhidas a fim de reduzir o tempo da perícia, tendo em conta a experiência do SGBF-N. Há uma grande variabilidade de amostras que podem ser recebidas no SGBF para identificação, sendo a mais comum a mancha de sangue, seguida de osso, dente, unhas e músculo. Em casos de cadáver carbonizado, frequentemente o sangue permite resultados muito satisfatórios. Já em situações de morte por afogamento, por exemplo, a amostra de sangue dificilmente permite obtenção de perfis genéticos valorizáveis. Assim, do pondo de vista do SGBF, seria uma boa política, além dessa amostra, cujo estudo permanecerá sempre preferencial e realizado em primeiro lugar, o SCPF e/ou os GMLF colherem logo outros tipos de amostras, nomeadamente, e por ordem preferencial para o SGBF-N: unhas, músculo, osso e dente. Desta forma, o SGBF poderia iniciar em simultâneo, ou imediatamente a seguir à não obtenção de um perfil genético o processamento de outras amostras. Esta estratégia permitiria eliminar o período que abrange a solicitação ao perito médico de nova recolha de amostras e a receção das mesmas, reduzindo o tempo da perícia. Será apresentado um caso no poster. Outro fator que poderia acelerar e facilitar o procedimento relaciona-se com a correta identificação do grau de parentesco entre os supostos familiares e o cadáver, especialmente quando não se trata de parentes com relações diretas. Esta informação, fornecida aquando da receção das amostras permite ao perito determinar corretamente o pedigree a valorizar e optar prontamente pela análise de outros polimorfismos de ADN que permitam chegar a uma conclusão pericial mais clara e inequívoca. A colaboração entre os serviços envolvidos, permite uma melhor resposta prestada pelo INMLCF, especialmente nestes processos de caráter tão sensível.