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Estudo do genoma mitocondrial com metodologia NGS : Contributo para a caracterização da população do Sul de Portugal
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Orientador(es)
Resumo(s)
O ADN mitocondrial (ADNmt), uma molécula de ADN circular encontrada nas mitocôndrias,
é herdado exclusivamente por via materna sem sofrer recombinação genética significativa. Estas
características tornam-no um marcador genético fundamental na investigação da origem populacional
e dispersão humana, sendo também amplamente utilizado em casos forenses onde o ADN nuclear é
inadequado ou inexistente.
Esta dissertação teve como principal objetivo a análise do ADNmt para caracterizar a
diversidade genética e a ancestralidade da população do Sul de Portugal. O estudo envolveu a análise
de 155 amostras através da sequenciação da nova geração (NGS), que permite obter o genoma
mitocondrial completo com maior eficiência. Paralelamente, para a validação e implementação da
técnica de NGS, no Instituto Nacional de Medicina Legal e Ciências Forenses (INMLCF), esta foi
comparada com a metodologia de sequenciação de Sanger (SS). As amostras foram previamente
estudadas por SS, tendo-se verificado uma concordância, na região controlo do ADNmt, entre os dois
métodos de sequenciação. A NGS demonstrou várias vantagens, incluindo maior precisão e cobertura
do genoma, simplificando o processo de sequenciação. Relativamente ao estudo filogenético, a
população do Sul de Portugal revelou uma maior divergência genética, face às restantes regiões,
refletindo possíveis influências histórias e padrões migratórios distintos.
Os resultados obtidos contribuem significativamente para o conhecimento da diversidade
genética da população na região do Sul de Portugal e promovem avanços na área da genética forense.
O uso do ADNmt, aliado às tecnologias de sequenciação avançada, mostra-se essencial tanto na
caracterização de populações, como em outras áreas, reforçando a sua aplicabilidade em contextos
forenses e científicos.
Mitochondrial DNA (mtDNA), a circular DNA molecule found in mitochondria, is inherited exclusively by the mother without undergoing significant genetic recombination. These characteristics make it a fundamental genetic marker in the investigation of population origin and human dispersion, and it is also widely used in forensic cases where nuclear DNA is inadequate or non-existent. The main aim of this dissertation was to analyse mtDNA to characterise the genetic diversity and ancestry of the population of southern Portugal. The study involved analysing 155 samples using next generation sequencing (NGS), which makes it possible to obtain the complete mitochondrial genome more efficiently. At the same time, in order to validate and implement the NGS technique at the National Institute of Legal Medicine and Forensic Sciences (INMLCF), it was compared with the Sanger sequencing (SS) methodology. The samples had previously been studied by SS and there was concordance between the two sequencing methods in the control region of the mtDNA. NGS demonstrated several advantages, including greater precision and coverage of the genome, simplifying the sequencing process. Regarding the phylogenetic analysis, the population from southern Portugal exhibited greater genetic divergence compared to other regions, reflecting possible historical influences and distinct migratory patterns. The results obtained significantly contribute to the knowledge of the genetic diversity of the population in the southern region of Portugal and promote advances in the area of forensic genetics. The use of mtDNA, combined with advanced sequencing technologies, is proving to be essential both in population characterisation and in other areas, reinforcing its applicability in forensic and scientific contexts.
Mitochondrial DNA (mtDNA), a circular DNA molecule found in mitochondria, is inherited exclusively by the mother without undergoing significant genetic recombination. These characteristics make it a fundamental genetic marker in the investigation of population origin and human dispersion, and it is also widely used in forensic cases where nuclear DNA is inadequate or non-existent. The main aim of this dissertation was to analyse mtDNA to characterise the genetic diversity and ancestry of the population of southern Portugal. The study involved analysing 155 samples using next generation sequencing (NGS), which makes it possible to obtain the complete mitochondrial genome more efficiently. At the same time, in order to validate and implement the NGS technique at the National Institute of Legal Medicine and Forensic Sciences (INMLCF), it was compared with the Sanger sequencing (SS) methodology. The samples had previously been studied by SS and there was concordance between the two sequencing methods in the control region of the mtDNA. NGS demonstrated several advantages, including greater precision and coverage of the genome, simplifying the sequencing process. Regarding the phylogenetic analysis, the population from southern Portugal exhibited greater genetic divergence compared to other regions, reflecting possible historical influences and distinct migratory patterns. The results obtained significantly contribute to the knowledge of the genetic diversity of the population in the southern region of Portugal and promote advances in the area of forensic genetics. The use of mtDNA, combined with advanced sequencing technologies, is proving to be essential both in population characterisation and in other areas, reinforcing its applicability in forensic and scientific contexts.
Descrição
Tese de mestrado, Biologia Molecular e Genética, 2025, Universidade de Lisboa, Faculdade de Ciências
Palavras-chave
ADN mitocondrial Sequenciação de Nova Geração Genética Forense População de Lisboa Caracterização Filogenética Teses de mestrado - 2025