Aplicação de marcadores moleculares do cromossomo X na identificação humana
Data
2015-05-27
Autores
Bittencourt, Eloisa Aurora Auler 
Orientadores
Silva, Ismael Dale Cotrim Guerreiro da
Tipo
Tese de doutorado
Título da Revista
ISSN da Revista
Título de Volume
Resumo
Introdução: As análises de parentesco e filiação envolvem amostras a serem comparadas umas com as outras acompanhadas de uma pergunta que visa estabelecer um vínculo familiar específico. Na maioria dos casos, a análise dos marcadores de STR autossômicos é suficiente para determinar o vínculo genético. No entanto, quando a configuração familiar disponível para análise é deficiente, o exame pode ser inconclusivo. Objetivos: Este trabalho relata a aplicação de um sistema multiplex de doze marcadores associados aos cromossomos X (DXS7132, DXS7423, DXS7133, GATA172DO5, DX7130, DXS6800, GATA31E08, HPRTB, DXS6789, DXS9898, DXS9895, DXS10011) na resolução de casos reais sendo dois casos de identificação humana de vítimas de acidente de trânsito e um caso de teste de paternidades decorrentes de estupros onde a análise de STRs-X em complemento aos STRs autossômicos apresentou diferentes graus de eficiência e impacto. Métodos: Diferentes tipos de amostras biológicas (ossos, cartilagens, dentes, tecidos, sangue e mucosas orais) dos cadáveres e dos parentes consanguíneos informados foram amplificados utilizando a reação em cadeia da polimerase (PCR) e os produtos de amplificação foram analisados através de um seqüenciador automático. As análises estatísticas foram realizadas utilizando-se do programa computadorizado Famílias 1.8 e os valores de frequências alélicas foram obtidas em base de dados específica da população brasileira publicada por Ribeiro-Rodrigues et al. (2011). Resultados: O sistema multiplex de 12 STRs-X demonstrou ser uma ferramenta extremamente valiosa para a análise de casos com deficiência de filiação e parentesco aumentando a capacidade de informação dos kits comerciais STR autossômicos utilizados na prática forense. Nos casos em que foi possível reconstruir o genótipo do alegado pai, os marcadores do cromossomo X foram mais informativos que os marcadores autossômicos. Conclusões: Os resultados obtidos com este trabalho visam melhorar as estratégias metodológicas na área de identificação humana e demonstram que os marcadores moleculares do cromossomo X podem auxiliar eficientemente os sistemas STRs autossômicos, definindo com mais clareza as questões de parentescos biológicos.
Introduction: The kinship and parentage analysis involves samples to be compared with each other accompanied by a question aimed at establishing a specific family ties. In most cases, the analysis of autosomal STR markers is sufficient to determine the genetic relationship. However, when the family configuration available for analysis is deficient, the test may be inconclusive. Objective: This paper describes the application of a multiplex system of twelve markers associated with the X chromosome (DXS7132, DXS7423, DXS7133, GATA172DO5, DX7130, DXS6800, GATA31E08, HPRTB, DXS6789, DXS9898, DXS9895, DXS10011) in actual case resolution being two cases human identification of traffic accident victims and a case of paternity arising from rape where the analysis of STRs-X in addition to autosomal STRs showed different degrees of efficiency and impact. Methods: Different types of biological samples (bone, cartilage, teeth, tissues, blood and oral mucosa) of corpses and blood relatives were amplified using the polymerase chain reaction (PCR) and the amplification products were analyzed by an automatic sequencer. Statistical analyzes were performed using the computer program Families 1.8 and values of allele frequencies were obtained on Brazilian data published by Ribeiro-Rodrigues et al. (2011). Results: The multiplex system of 12 STRs-X proved to be an extremely valuable tool for the analysis of cases with disabilities membership and kinship increasing the information capacity of autosomal STR commercial kits used in forensics. Where it was possible to reconstruct the alleged father of the genotype of the X chromosome markers were more informative than the autosomal markers. Conclusions: The results obtained from this work aimed at improving the methodological strategies for human identification area and show that the X chromosome markers can efficiently assist autosomal STRs systems, defining more clearly the issues.
Introduction: The kinship and parentage analysis involves samples to be compared with each other accompanied by a question aimed at establishing a specific family ties. In most cases, the analysis of autosomal STR markers is sufficient to determine the genetic relationship. However, when the family configuration available for analysis is deficient, the test may be inconclusive. Objective: This paper describes the application of a multiplex system of twelve markers associated with the X chromosome (DXS7132, DXS7423, DXS7133, GATA172DO5, DX7130, DXS6800, GATA31E08, HPRTB, DXS6789, DXS9898, DXS9895, DXS10011) in actual case resolution being two cases human identification of traffic accident victims and a case of paternity arising from rape where the analysis of STRs-X in addition to autosomal STRs showed different degrees of efficiency and impact. Methods: Different types of biological samples (bone, cartilage, teeth, tissues, blood and oral mucosa) of corpses and blood relatives were amplified using the polymerase chain reaction (PCR) and the amplification products were analyzed by an automatic sequencer. Statistical analyzes were performed using the computer program Families 1.8 and values of allele frequencies were obtained on Brazilian data published by Ribeiro-Rodrigues et al. (2011). Results: The multiplex system of 12 STRs-X proved to be an extremely valuable tool for the analysis of cases with disabilities membership and kinship increasing the information capacity of autosomal STR commercial kits used in forensics. Where it was possible to reconstruct the alleged father of the genotype of the X chromosome markers were more informative than the autosomal markers. Conclusions: The results obtained from this work aimed at improving the methodological strategies for human identification area and show that the X chromosome markers can efficiently assist autosomal STRs systems, defining more clearly the issues.
Descrição
Citação
BITTENCOURT, Eloisa Aurora Auler. Aplicação de marcadores moleculares do cromossomo x na identificação humana. 2015. 162 f. Tese (Doutorado em Biologia Molecular) - Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, 2015.