Genotipagem de pacientes com retinose pigmentar utilizando sequenciamento de nova geração

• Ano de defesa: 2016
• Autor(a) principal: Costa, Karita Antunes [UNIFESP]
• Tipo de documento: Tese
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Universidade Federal de São Paulo (UNIFESP)
• Palavras-chave em Português: Retinal genetic diseases; Pigmentary retinosis; Molecular genetic diagnosis; DNA; Genetic sequencing; New generation sequencing; Retinal dystrophies; Doenças genéticas da retina; Retinose pigmentar; Diagnóstico genético molecular; Sequenciamento genético; Sequenciamento de nova geração; Distrofias de retina
• Link de acesso: https://sucupira.capes.gov.br/sucupira/public/consultas/coleta/trabalhoConclusao/viewTrabalhoConclusao.jsf?popup=true&id_trabalho=3936143; http://repositorio.unifesp.br/handle/11600/47721

Retinitis pigmentosa is a group of diseases characterized clinically by loss of peripheral visual field, and night blindness can be caused by mutations in several genes. Purpose: Determine, for each of the 16 patients, the molecular basis of RP by the analysis of 132 genes related dystrophies Retina. Methods: 16 patients with the clinical diagnosis of retinitis pigmentosa, which could have an autosomal dominant cause, were included. DNA was extracted from peripheral blood. Specific primers were designed to be used in NGS Illumina platform. Sequencing was performed according to the Illumina protocol. The NGS strategy was to identify mutations. genomic variations were analyzed by predictions programs and databases such as the National Center for Biotechnology Information (NCBI) Gene Cards, Human Gene Mutation Data (HGMD) Mutation Taster and Polyphen 2. Results: Nine patients had positive or probably positive. The term "probably positive" have been used when the change is predicted as pathogenic, but there are no reports in the literature consulted. Six patients had inconclusive results and a negative result. Information on the variations were analyzed in different databases. Conclusion: NGS was an effective tool for molecular genotyping of individuals with diseases of high genetic heterogeneity as Retinitis Pigmentosa.