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Estudo Do ADN Mitocondrial De Uma População De Indivíduos Nativos De Angola Residentes Em Lisboa

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Estudo Do ADN Mitocondrial De Uma População De Indivíduos Nativos De Angola Residentes Em Lisboa Filipa Isabel Figueira Simão Licenciada em Ciências Forenses e Criminais Estudo do ADN mitocondrial de uma população de indivíduos nativos de Angola residentes em Lisboa Dissertação para obtenção do Grau de Mestre em Bioquímica Orientador: António Amorim, Especialista Superior de Medicina Legal, Instituto Nacional de Medicina Legal e Ciências Forenses, Delegação Sul Co-orientadora: Heloísa Afonso Costa, Especialista Superior de Medicina Legal, Instituto Nacional de Medicina Legal e Ciências Forenses, Delegação Sul Júri: Presidente: Prof. Doutor Pedro António de Brito Tavares Arguente: Prof. Doutora Maria Marise Simões de Almeida Vogal: Mestre Heloísa Afonso Costa Dezembro 2014 Filipa Isabel Figueira Simão Licenciada em Ciências Forenses e Criminais Estudo do ADN mitocondrial de uma população de indivíduos nativos de Angola residentes em Lisboa Dissertação para obtenção do Grau de Mestre em Bioquímica Orientador: António Amorim, Especialista Superior de Medicina Legal, Instituto Nacional de Medicina Legal e Ciências Forenses, Delegação Sul Co-orientadora: Heloísa Afonso Costa, Especialista Superior de Medicina Legal, Instituto Nacional de Medicina Legal e Ciências Forenses, Delegação Sul Monte da Caparica, Faculdade de Ciências e Tecnologia, Universidade de Lisboa Dezembro 2014 Estudo do ADN mitocondrial de uma população de indivíduos nativos de Angola residentes em Lisboa Copyright © Eu, Filipa Isabel Figueira Simão, declaro que a Faculdade de Ciências e Tecnologia e a Universidade Nova de Lisboa têm o direito, perpétuo e sem limites geográficos, de arquivar e publicar esta dissertação através de exemplares impressos reproduzidos em papel ou de forma digital, ou por qualquer outro meio conhecido ou que venha a ser inventado, e de a divulgar através de repositórios científicos e de admitir a sua cópia e distribuição com objetivos educacionais ou de investigação, não comerciais, desde que seja dado crédito ao autor e editor. Agradecimentos _____________________ No final desta etapa não podia deixar de agradecer a quem contribuiu, a nível profissional e pessoal, para a sua concretização. Ao meu orientador Professor António Amorim, por ter aceite a orientação da presente Dissertação de Mestrado, pela sua disponibilidade e pelo grande apoio prestado na realização deste trabalho. À minha orientadora Mestre Heloísa Afonso Costa, por ter aceite a orientação da presente Dissertação de Mestrado, por todos os conhecimentos transmitidos, pela tranquilidade demonstrada e pelos incentivos. Ao Sr. Prof. Jorge Costa Santos e ao Dr. Mário Dias, na condição de anterior e atual diretor da delegação sul do Instituto Nacional de Medicina Legal, por permitirem a realização do projeto nas instalações do serviço de Genética e Biologia Forenses do Instituto Nacional de Medicina Legal e Ciências Forenses. À Dra. Teresa Ribeiro por me ter recebido e integrado no Serviço de Genética e Biologia Forenses. À restante equipa do Serviço de Genética e Biologia Forenses, pela ajuda técnica prestada. À Rita Reis e à Joana Lopes pela amizade que surgiu e cresceu para além das paredes do laboratório. À Carina Almeida, Catarina Dourado e restantes colegas estagiárias pela boa disposição e momentos de descontração. À Margarida Cassiano, Filipa Loureiro, Emma Gomes, Maria Carrega, Raquel Cláudio, Luís Salvador, Luís Guerreiro, João Paulos e Diogo Lança pela amizade. Cada um, da sua forma e no seu momento, me incentivou e apoiou. Estiveram presentes nos momentos cruciais. Aos meus pais, Maria João Simão e José Simão, por sempre confiarem e apoiarem as minhas escolhas e decisões e por me demonstrarem que com trabalho e dedicação é possível ultrapassar todos os obstáculos. Ao meu irmão Miguel Simão, pela facilidade com que me faz sorrir, mesmo nos dias menos alegres. i ii Resumo _____________________ Nas últimas décadas o número de imigrantes em Portugal aumentou consideravelmente. Até ao final do ano de 2013 o número de imigrantes Angolanos a residir em Portugal atingiu os 20 000 indivíduos, verificando-se uma predominância territorial na região metropolitana de Lisboa. Angola é um país situado na costa Atlântica Sul do continente Africano. A presença do povo Bantu, assim como a colonização pelo povo Português durante o século XV, são considerados como os principais modeladores do padrão genético da população deste país. A transmissão exclusiva por via materna, o levado número de cópias, a ausência de recombinação e a elevada taxa de mutação inerentes ao ADN mitocondrial, são características que o tornam útil em estudos de origem e evolução Humana, assim como em investigações forenses. O principal objetivo deste estudo foi caracterizar geneticamente a população de imigrantes Angolanos a residir em Lisboa. Para tal foi estudado um grupo de 173 indivíduos, residentes em Lisboa, com ascendência Angolana confirmada e não relacionados entre si. Sequenciou-se a região controlo do ADN mitocondrial com recurso aos primers L15997/H016 e L16555/H639. Cerca de 85% dos haplótipos identificados são únicos. A maioria dos haplogrupos determinados pertence a linhagens de ADN mitocondrial descritas como específicas da região subsariana de África, com cerca de 87% dos haplótipos pertencentes ao macrohaplogrupo L. Do estudo filogenético verificou-se que as populações geneticamente mais próximas foram a nossa população imigrante de Angola e as populações de indivíduos Angolanos a residir em Angola e de indivíduos pertencentes a diversos grupos étnico-linguísticos Bantu. Este estudo vem alertar para a grande diversidade genética que a população imigrante Angolana introduz em Lisboa nas gerações atuais e nas gerações futuras. Teremos num futuro muito próximo, indivíduos naturais e nacionais de Lisboa com haplótipos, até então, considerados como tipicamente Africanos. Os haplótipos da população Angolana imigrante a residir em Lisboa foram submetidos e aceites para inserção na base de dados EMPOP (EDNAP Forensic mtDNA Population Database) com o número de acesso EMPOP662. Palavras-chave: ADN mitocondrial; região controlo total; Angola; Lisboa iii iv Abstract _____________________ In the past decades the number of immigrant people in Portugal has grown. According to statistical data, until the end of 2013 the total number of Angolan immigrants in Portugal equalled about 20 000 individuals. A territorial predominance has been found for the metropolitan region of Lisboa. Angola is a country located at Atlantic coast of Africa. The presence of Bantu people and the colonization by Portuguese people on Angolan territory are considered to be the major modulators of genetic patterns in Angola. Maternal inheritance, high copy number, lack of recombination and high mutation rate inherent to mitochondrial DNA, are characteristics that makes this genetic marker useful in studies of human origin and evolution. Mitochondrial DNA can also contribute to ascertain the identity of individuals in forensic cases, by determining the haplotypes frequency. The main aim of this study was to ascertain the genetic structure of Angolan immigrant population living in Lisboa. Therefore a total of 173 individuals, inhabitants at Lisboa, nonrelated and with Angolan ancestry, were studied. Total control region of mitochondrial DNA was amplified using the primers L15997/H016 and L16555/H639. About 85% of the studied haplotypes are unique among the 173 samples. The majority of the identified haplotypes belong to mtDNA lineages known to be specific of sub-Saharan region (about 87% haplotypes belong to macrohaplogroup L). Through the phylogenetic study it was found that the populations genetically closer were our immigrant population of Angola and the populations of individuals from various ethnic and linguistic Bantu groups. This study evidences the genetic diversity that Angolan immigrant population introduces in Lisbon, on current and future generations. We will have, in a very near future, natural and national individuals living in Lisbon with haplotypes, until recently, considered as typically African. Lisboa immigrant population from Angola can be accessed via EMPOP (EDNAP Forensic mtDNA Population Database) dataset with accession number EMPOP662. Keywords: Mitochondrial DNA; control region; Angola; Lisboa v vi Índice _____________________ Agradecimentos……………………………………………………………………………………i Resumo…………………………………………………………………………………….………….iii Abstract…………………………………………………………………..…………………………….v Índice…………………………………………………………….……………………………………..vii Índice de figuras………………………………………………………………………………….ix Índice de tabelas…………………………………………………………………………………xi Abreviaturas e siglas………………………………………………………………………….xiii 1. Objetivos ............................................................................................................................ 1 2. Introdução .......................................................................................................................... 3 2.1 A origem do Homem moderno .......................................................................... 3 2.2 Angola ....................................................................................................................... 4 2.2.1 Aspetos geográficos ...................................................................................... 4 2.2.2 História de Angola ......................................................................................... 5 a. Período pré-colonial ................................................................................. 6 b. Período colonial ......................................................................................
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