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Estudo de marcadores do cromossoma Y com interesse forense em imigrantes de países africanos no Centro e Sul de Portugal
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Portugal continental, sobretudo nas regiões litorais e nomeadamente na região de Lisboa e Vale do Tejo, tem sido uma região atrativa para muitas comunidades de imigrantes, particularmente de origem africana, descendentes ou imigrantes provenientes de antigas colónias Portuguesas em África. Em 2018 residiam em Portugal 477.472 cidadãos estrangeiros, representando cerca 4,6% do total de residentes, sendo estes de várias nacionalidades diferentes, e podendo-se destacar a população oriunda de países africanos (18,8%). Devido à tendência para o aumento da imigração, a introdução de novos grupos populacionais em Portugal, com características genéticas diferentes, poderá introduzir variabilidade genética na população de acolhimento, que por sua vez pode alterar a estrutura genética da população, nomeadamente, frequências relativas de determinados alelos. Estes fluxos migratórios e a variabilidade genética introduzida nas populações podem interferir com a interpretação de resultados com interesse forense, visto que estes dependem de frequências alélicas conhecidas. O seu estudo é imperativo para garantir que a avaliação da perícia forense seja o mais rigorosa possível e para que estas alterações não tenham impactos significativos em processos de investigação presentes e futuros. Este estudo deve ser efetuado através de marcadores genéticos do cromossoma Y e autossómicos. O kit PowerPlex® Y23 System (Promega) contém primers para amplificação simultânea de 23 marcadores genéticos do cromossoma Y, em particular: DYS576, DYS389I/II, DYS448, DYS19, DYS391, DYS481, DYS549, DYS533, DYS438 (penta), DYS437, DYS570, DYS635, DYS390, DYS439, DYS392, DYS643 (penta), DYS393, DYS458, DYS385a/b, DYS456 e Y-GATA-H4. A partir da utilização deste kit para a análise de marcadores genéticos, pode-se obter uma caracterização representativa das populações masculinas imigrantes residentes no sul de Portugal. Este trabalho tem como objetivo a caracterização genética de uma amostra representativa de indivíduos imigrantes de países africanos residentes na zona sul de Portugal, com marcadores genéticos do cromossoma Y, e respetiva comparação com a população de acolhimento, avaliando o possível impacto da sua introdução na mesma. Conclui-se que diferenças significativas entre a população de acolhimento e as populações em estudo neste trabalho, logo as suas frequências alélicas e estruturas genéticas deverão também ser diferentes. Este estudo fornece evidência de que a inserção destes haplótipos na população poderá ter um impacto significativo na estrutura genética da população residente no Sul e Centro de Portugal. Tal impacto poderá afetar estudos populacionais ou processos criminais dependentes destas frequências.
Continental Portugal, especially in coastal regions and specifically in the Lisboa e Vale do Tejo region, has been an attractive hub for many immigrant communities, in particular those with African ascendance, descendants or immigrants from African countries that used to be Portuguese colonies. In 2018, Portugal housed 477.472 foreign citizens, representing about 4,6% of the overall resident population, being that these belong to a wide breadth of nationalities, of which the African population stands out considerably (18,8%). Given the tendency for immigration rates to increase, the introduction of new populational groups in Portugal, with different genetic characteristics, may introduce genetic variability in the host population, which can in turn alter the genetic structure of the population, namely, the relative frequency of certain alleles. These migration fluxes and the genetic variability introduced in populations may affect the interpretation of results in forensic investigations, as these depend on known allele frequencies. The study of these populations is essential to guarantee the utmost accuracy of the evaluation of forensic testing, and that these alterations do not significantly affect ongoing or future forensic investigations. This study may be conducted through the analysis of Y chromosome genetic markers. The PowerPlex® Y23 System (Promega) amplification kit contains primers for the co-amplification of 23 different Y chromosome genetic markers, in particular: DYS576, DYS389I/II, DYS448, DYS19, DYS391, DYS481, DYS549, DYS533, DYS438 (penta), DYS437, DYS570, DYS635, DYS390, DYS439, DYS392, DYS643 (penta), DYS393, DYS458, DYS385a/b, DYS456 e Y-GATA-H4. With the use of this kit, a representative characterisation of the male immigrant populations residing in central and southern Portugal can be obtained. This study intends to conduct the genetic characterisation of a representative sample of African immigrants residing in central and southern Portugal by means of Y chromosome genetic markers. This sample will then be compared with the host population, in order to evaluate its potential impact in the genetic makeup of the latter. Here, we conclude that there are differences between the host population and the populations being studied in this work, therefore, their allelic frequencies and genetic structures should also be different. This study offers evidence that the insertion of these haplotypes in the population could then have a significant impact in the genetic structure of the resident population in South and Central Portugal. Such an impact could affect population studies or criminal investigations that depend on these frequencies.
Continental Portugal, especially in coastal regions and specifically in the Lisboa e Vale do Tejo region, has been an attractive hub for many immigrant communities, in particular those with African ascendance, descendants or immigrants from African countries that used to be Portuguese colonies. In 2018, Portugal housed 477.472 foreign citizens, representing about 4,6% of the overall resident population, being that these belong to a wide breadth of nationalities, of which the African population stands out considerably (18,8%). Given the tendency for immigration rates to increase, the introduction of new populational groups in Portugal, with different genetic characteristics, may introduce genetic variability in the host population, which can in turn alter the genetic structure of the population, namely, the relative frequency of certain alleles. These migration fluxes and the genetic variability introduced in populations may affect the interpretation of results in forensic investigations, as these depend on known allele frequencies. The study of these populations is essential to guarantee the utmost accuracy of the evaluation of forensic testing, and that these alterations do not significantly affect ongoing or future forensic investigations. This study may be conducted through the analysis of Y chromosome genetic markers. The PowerPlex® Y23 System (Promega) amplification kit contains primers for the co-amplification of 23 different Y chromosome genetic markers, in particular: DYS576, DYS389I/II, DYS448, DYS19, DYS391, DYS481, DYS549, DYS533, DYS438 (penta), DYS437, DYS570, DYS635, DYS390, DYS439, DYS392, DYS643 (penta), DYS393, DYS458, DYS385a/b, DYS456 e Y-GATA-H4. With the use of this kit, a representative characterisation of the male immigrant populations residing in central and southern Portugal can be obtained. This study intends to conduct the genetic characterisation of a representative sample of African immigrants residing in central and southern Portugal by means of Y chromosome genetic markers. This sample will then be compared with the host population, in order to evaluate its potential impact in the genetic makeup of the latter. Here, we conclude that there are differences between the host population and the populations being studied in this work, therefore, their allelic frequencies and genetic structures should also be different. This study offers evidence that the insertion of these haplotypes in the population could then have a significant impact in the genetic structure of the resident population in South and Central Portugal. Such an impact could affect population studies or criminal investigations that depend on these frequencies.
Descrição
Tese de mestrado Biologia Molecular e Genética, Universidade de Lisboa, Faculdade de Ciências, 2019
Palavras-chave
Genética Forense Imigração Cromossoma Y STRs PowerPlex® Y23 System Teses de mestrado - 2019