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Abstract(s)
O presente estudo teve lugar no Serviço de Genética e Biologia Forenses da Delegação do Centro do Instituto Nacional de Medicina Legal e Ciências Forenses, em Coimbra, com o objetivo de caracterizar a diversidade genética dos principais grupos populacionais de Moçambique, nomeadamente Macua e Changana.
Para o efeito, foram analisados 15 loci STR autossómicos (D8S1779, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 e FGA assim como a amelogenina, em 160 amostras de indivíduos não aparentados de ambos os sexos das cidades de Maputo e Nampula. Foram colhidas amostras de sangue, depois da confirmação do grupo populacional e de obtido o consentimento informado. A extração do ADN foi realizada de acordo com o protocolo proposto por Walsh et al. (1991). As amostras extraídas foram amplificadas usando o kit AmpFlSTR® Identifiler® Direct (ABI). Os fragmentos amplificados foram separados por eletroforese capilar (usando um padrão interno GeneScanTM 500 Size Standard e a designação alélica foi feita utilizando um ladder alélico) no sequenciador automático ABI PRISM® 310 Genetic Analyzer. As frequências alélicas, os parâmetros estatísticos de interesse forense bem como o valor P do teste exacto de Fisher para a verificação do equilíbrio de Hardy-Weinberg, foram calculadas usando o algoritmo das cadeias de Markov no programa ARLEQUIM versão 3.11. As distâncias genéticas entre a população de Moçambique e as de alguns países de África, América Latina e Europa foram calculadas usando o programa PHYLIP versão 3.68 de acordo com o algoritmo Neighbor-Joining. Para o cálculo do valor exacto da probabilidade P das cadeias de Markov, foi usado o módulo STRUC do programa GENEPOP versão 4.1.4. A árvore filogenética foi gerada no programa TreeView versão 1.5.2.
As frequências alélicas nos 15 loci STR autossómicos estão em equilíbrio de Hardy-Weinberg (P>0.05) apresentando um poder de discriminação acumulado de 0.99999999997 e uma probabilidade de exclusão a priori acumulada de 0.999999466. Não foram encontradas diferenças genéticas significativas entre a população Macua e Changana (P>0.05). A análise filogenética revela que a população de Moçambique se encontra geneticamente próxima de outras populações africanas (Angola, Guiné Equatorial, Uganda, Namíbia e Somália), distinguindo-se do grupo formado pelas populações da América Latina (Brasil, Venezuela, México, Argentina) e as europeias (Grécia, Polónia, Croácia, Servia-Montenegro, Suécia, Bélgica e Portugal). Os loci FGA e D21S11 apresentaram as variantes alélicas 16.1 e 24.3 respetivamente. Das 160 amostras analisadas, 6 exibiram um padrão trialélico no locus TPOX, sendo duas do sexo masculino e quatro do sexo feminino.
This study took place at the Centre Branch of the National Institute of Legal Medicine and Forensic Sciences, Coimbra-Portugal, in order to characterise the genetic diversity of the main Mozambican´s population groups namely, Macua and Changana. For this purpose, 15 autosomal STR loci D8S1779, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA as well as amelogenin were analyzed in 160 samples from unrelated individuals of both sex from Maputo and Nampula cities. Blood samples were collected after confirmation of ethnicity and informed consent has been given. Nuclear DNA was extracted by Chelex as proposed by Walsh et al. (1991). Samples were amplified using the AmpFlSTR® Identifiler® Direct® PCR amplification kit. PCR products were detected and separated by capillary electrophoresis using an ABI PRISM® 310 Genetic Analyzer. Allelic frequencies, statistical parameters of forensic interest as well as unbiased estimates of Hardy-Weinberg exact P-value were assessed using the Markov chain algorithm with ARLEQUIN software version 3.11. Genetic distances between our population and those from Africa, Latin America and Europe were calculated using PHYLIP software version 3.68 according to neighborjoining algorithm. Locus by locus computation of unbiased estimate of exact P-values of the probability test was assessed using Markov chains algorithm with the STRUC module of GENEPOP software version 4.1.4. Philogenitic tree was visualized using TreeView Software version 1.5.2. Allele frequencies in the 15 analyzed loci are in Hardy-Weinberg equilibrium (P>0.05), the power of discrimination and combined probability of exclusion are 0.99999999997 and 0.999999466 respectively. There are no statistical differences between Macua and Changana Mozambican’s populations (P>0.05). According to philogenetic analysis, both Mozambican’s populations are genetically close to those from Africa (Angola, Uganda, Equatorial Guinea, Namibia and Somali) distinguishing themselves from Latin American (Brazil, Venezuela, Mexico and Argentina) and European (Greek, Poland, Croatia, Serbia-Montenegro, Sweden, Belgium and Portugal) populations. The allele’s variants 16.1 and 24.3 at loci FGA and D21S11 respectively, were detected. Tri-allelic patterns at TPOX locus were found in six samples from two males and four females.
This study took place at the Centre Branch of the National Institute of Legal Medicine and Forensic Sciences, Coimbra-Portugal, in order to characterise the genetic diversity of the main Mozambican´s population groups namely, Macua and Changana. For this purpose, 15 autosomal STR loci D8S1779, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA as well as amelogenin were analyzed in 160 samples from unrelated individuals of both sex from Maputo and Nampula cities. Blood samples were collected after confirmation of ethnicity and informed consent has been given. Nuclear DNA was extracted by Chelex as proposed by Walsh et al. (1991). Samples were amplified using the AmpFlSTR® Identifiler® Direct® PCR amplification kit. PCR products were detected and separated by capillary electrophoresis using an ABI PRISM® 310 Genetic Analyzer. Allelic frequencies, statistical parameters of forensic interest as well as unbiased estimates of Hardy-Weinberg exact P-value were assessed using the Markov chain algorithm with ARLEQUIN software version 3.11. Genetic distances between our population and those from Africa, Latin America and Europe were calculated using PHYLIP software version 3.68 according to neighborjoining algorithm. Locus by locus computation of unbiased estimate of exact P-values of the probability test was assessed using Markov chains algorithm with the STRUC module of GENEPOP software version 4.1.4. Philogenitic tree was visualized using TreeView Software version 1.5.2. Allele frequencies in the 15 analyzed loci are in Hardy-Weinberg equilibrium (P>0.05), the power of discrimination and combined probability of exclusion are 0.99999999997 and 0.999999466 respectively. There are no statistical differences between Macua and Changana Mozambican’s populations (P>0.05). According to philogenetic analysis, both Mozambican’s populations are genetically close to those from Africa (Angola, Uganda, Equatorial Guinea, Namibia and Somali) distinguishing themselves from Latin American (Brazil, Venezuela, Mexico and Argentina) and European (Greek, Poland, Croatia, Serbia-Montenegro, Sweden, Belgium and Portugal) populations. The allele’s variants 16.1 and 24.3 at loci FGA and D21S11 respectively, were detected. Tri-allelic patterns at TPOX locus were found in six samples from two males and four females.
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Keywords
Frequência alélica Genoma humano Genética forense - Moçambique
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Universidade da Beira Interior