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- 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.
- 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
- 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.
- Study of genetic markers with medical-legal and forensic interest in Lisbon’s population (preliminary results)Publication . Rodrigues, Diogo; Vieira Silva, Cláudia; Afonso Costa, Heloísa; Cunha, Eugénia; Porto, Maria João; Corte-Real, Francisco; Amorim, AntónioThe population in this study is composed of individuals who were born and live in Lisbon, and whose parents were also born in Lisbon. Due to the lacking of population studies regarding the following new STRs (Short Tandem Repeats): D2S1360, D3S1744, D4S2366, D5S2500, D6S474, D7S1517, D8S1132, D10S2325, D12S391, D21S2055, it was necessary to evaluate their frequencies in Lisbon’s population. Often, in complex cases, in order to confirm previously obtained results, the Investigator HDplex Kit (Qiagen) amplifies a set of STR markers, most of which are not featured in commonly used marker standards. This enables the reliable differentiation of forensic samples, providing a heightened discriminatory power in these demanding cases. The aim of this study is to analyze the frequencies of these additional STRs among Lisbon’s population.
- 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.