Implementação do sequenciamento genético massivo em paralelo na Seção Técnica de Biologia e Bacteriologia Legal da Polícia Civil do Estado de Minas Gerais

• Ano de defesa: 2022
• Autor(a) principal: Giovanni Vitral Pinto
• Tipo de documento: Dissertação
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Universidade Federal de Minas Gerais; Brasil; Programa de Pós-Graduação em Genética; UFMG
• Palavras-chave em Português: Genética forense; Marcadores moleculares; Eletroforese capilar; Next generation sequencing; Genética; Eletroforese
• Link de acesso: http://hdl.handle.net/1843/55402

The analysis of biological samples in forensic genetics is based especially on obtaining genetic profiles by the process of PCR (polymerase chain reaction) followed by capillary electrophoresis (EC). Due to the characteristics and limitations of this process, the Technical Section of Biology and Legal Bacteriology of the Criminalistics Institute of the Civil Police of the State of Minas Gerais (STBBL - PCMG), works to implement the massive parallel sequencing (SMP) technology, one of the technologies known as Next Generation Sequencing (NGS). In order to implement the SMP methodology for forensic purposes in samples of sexual violence at STBBL - PCMG, 30 samples referring to specific cases of sexual violence, one positive control (PC) plus one negative control (NC), to be sequenced using Verogen®'s ForenSeqTM DNA Signature Prep Kit. These samples were submitted to the PCR - EC methodology and subsequently sequenced by the SMP method. The quality metrics of the SMP implementation run were analyzed and evidenced the correct functioning of the Illumina MiSeqTM FGX equipment. The data generated by the sequencing were analyzed and the results obtained could be compared with the results provided by the PCR - EC methodology. For the detection of autosomal loci, the SMP methodology did not generate a genetic profile in 9.4% of the samples, while PCR - EC did not generate a genetic profile in 21.9% of the samples. When using the SMP methodology, in 81.3% of the samples complete genetic profiles were obtained, while the PCR - EC methodology provided complete genetic profiles in 50% of the samples. The analysis of Y STRs loci, using the PCR - EC methodology, generated complete and/or incomplete haplotype profiles in 58.8% of the samples, while the SMP methodology generated complete and/or incomplete haplotype profiles in 43.7%. In addition to the best result presented by the SMP for autosomal STRs, a set of information, such as X STRs and identity SNPs, which the PCR - EC methodology, currently standardized in STBBL, is not able to provide. Therefore, considering the results of this study, we conclude that the SMP methodology was successfully implemented in STBBL/PCMG generating as a result a Standard Operating Procedure (SOP) which can be executed by the Section Experts. From the data set obtained by the SMP, it is possible to add relevant information to forensic analysis, such as increasing the power of discrimination, assisting in cases of sexual violence, in cases of paternity resulting from rape and in the analysis of samples containing mixtures of material genetic.