74 documents found, page 1 of 8
Population of Northern Portugal: study of genetic diversity and forensic parame...
Maia, Bárbara; Souto, Luís; Fadoni, Jennifer; Cainé, Laura; Amorim, AntónioShort tandem repeats (STRs) are highly variable sequences present along the human genome, including the Y-chromosome. Y-STRs are exclusive to males, and the haplotypes they define are informative. Objectives: Twenty-six Y-STR loci were genotyped in 252 males from Northern Portugal to characterise Y-chromosome genetic variation using the Investigator Argus Y28 QS Kit. Methods: The kit mentioned was used to ampli...
Missing persons response: national programs and global cooperation in Brazil’s ...
Minervino, Aline; Amorim, António; Corte Real, F.; Cainé, LauraThe search and identification of missing persons represent a pressing global issue with profound humanitarian, legal, and institutional implications. This study presents an illustrative documentary review of MP/UHR identification initiatives in countries selected for their migration-related links to Brazil and their relevance to transnational DNA cooperation (Brazil, Portugal, Spain, France, the United Kingdom,...
X-chromosomal STRs: Metapopulations and mutation rates
Gusmão, L.; Antão-Sousa, S.; Faustino, M.; Abovich, M.A.; Aguirre, D.; Alghafri, R.; Alves, C.; Amorim, A.; Arévalo, C.; Baldassarri, L.The analysis of STRs located on the X chromosome has been one of the strategies used to address complex kinship cases. Its usefulness is, however, limited by the low availability of population haplotype frequency data and lack of knowledge on the probability of mutations. Due to the large amount of data required to obtain reliable estimates, it is important to investigate the possibility of grouping data from p...
Sudden Cardiac Death: The Role of Molecular Autopsy with Next-Generation Sequen...
Santos, Agostinho; Amorim, António; Cainé, Laura; Fadoni, JenniferMolecular autopsy is a term employed to describe the investigation of the cause of death through the analysis of genetic information using biological samples collected post-mortem. Its utility becomes evident in situations where conventional medico-legal autopsy methods are not able to identify the cause of death, i.e., in sudden cardiac death (SCD) cases in young individuals, where deaths are commonly due to g...
Sexually Transmitted Infections: Usefulness of Molecular Methods for Microorgan...
Cainé, Laura; Eiras, Ana; Fadoni, Jennifer; Franco, Magda; Correia Dias, Maria Helena; Amorim, AntónioSexual assault is a global public health and human rights concern, with serious physical, psychological and reproductive consequences for survivors. Among these, sexually transmitted infections are particularly relevant due to their frequently asymptomatic nature and potential for long-term complications. The detection of sexually transmitted infections in forensic settings is crucial for clinical management of...
The Genetic Structure of Cape Verdean Population Revealed by Y-Chromosome STRs
Cainé, Laura; Costa, Rita; Fadoni, Jennifer; Amorim, AntónioBackground/Objectives: Y-chromosomal short tandem repeats (Y-STR) are genetic markers widely used in forensic and population genetics. However, despite their importance, many populations remain under-represented in published studies and genetic databases. One such population is the Cape Verdean, which, despite its unique history of admixture between European and sub-Saharan African populations, continues to be ...
X-chromosomal STRs: Metapopulations and mutation rates
Gusmão, L.; Antão-Sousa, S.; Faustino, M.; Abovich, M.A.; Aguirre, D.; Alghafri, R.; Alves, C.; Amorim, A.; Arévalo, C.; Baldassarri, L.The analysis of STRs located on the X chromosome has been one of the strategies used to address complex kinship cases. Its usefulness is, however, limited by the low availability of population haplotype frequency data and lack of knowledge on the probability of mutations. Due to the large amount of data required to obtain reliable estimates, it is important to investigate the possibility of grouping data from p...
Análise comparativa de métodos de extração de ADN antigo em amostras ósseas e d...
Henriques, Madalena; Afonso Costa, Heloísa; Cainé, Laura; Amorim, AntónioO estudo do ADN antigo baseia-se em estratégias metodologicamente inovadoras e cumulativas, que visam a reconstrução genética de populações passadas a partir de fragmentos ósseos humanos com intervalos post mortem que variam entre centenas e milhares de anos. O procedimento laboratorial envolve etapas como a limpeza e fragmentação das amostras ósseas e dentárias, a extração, quantificação, amplificação, sequenc...
Cronómetros do Esqueleto: a metilação de ADN como o novo método da estimativa d...
Silva, João; Correia Dias, Helena; Afonso Costa, Heloísa; Nascimento, Rui; Corte Real, Francisco; Cainé, Laura; Amorim, AntónioNos últimos anos, a análise da metilação do ADN (DNAm) surgiu como uma ferramenta promissora para a estimativa da idade à morte do indivíduo, em contexto médico-legal e forense. Em situações mais complexas que envolvem remanescentes humanos esqueletizados não identificados, a estimativa da idade à morte é um pilar essencial, ajudando na identificação, mas também no redireccionamento da investigação forense e cr...
ADN antigo: pequenos passos, mas grandes avanços
Correia Dias, Helena; Franco, Magda; Afonso Costa, Heloísa; Nascimento, Rui; Figueiredo, Alexandra; Monteiro, Cláudio; Corte Real, FranciscoO estudo do DNA antigo (aDNA) será sempre uma fonte crucial de informação para a história das populações do passado e do futuro. Ao longo dos anos, o estudo do aDNA tem trazido vários obstáculos aos investigadores, os quais têm tentado novas abordagens para conseguir capturar material genético suficiente para as subsequentes análises. Com os diversos avanços tecnológicos, como a sequenciação genética next gener...