Análise da ocorrência de polimorfismo de nucleotídeo único do gene DOCK9 em ceratocone

• Ano de defesa: 2016
• Autor(a) principal: Reis, Leonardo Mariano
• Orientador(a): Ávila, Marcos Pereira de
• Banca de defesa: Ávila, Marcos Pereira de, Taleb, Alexandre Chater, Alves, Milton Ruiz, Rassi, Alan Ricardo, Silva, Leopoldo Magacho dos Santos
• Tipo de documento: Tese
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Universidade Federal de Goiás
• Programa de Pós-Graduação: Programa de Pós-graduação em Ciências da Saúde (FM)
• Departamento: Faculdade de Medicina - FM (RG)
• País: Brasil
• Palavras-chave em Português: Oftalmologia; Ceratocone; Córnea; Mutação genética; SNPs
• Palavras-chave em Inglês: Ophthalmology; Keratoconus; Cornea; Genetic mutation; SNPs
• Área do conhecimento CNPq: MEDICINA::ANATOMIA PATOLOGICA E PATOLOGIA CLINICA
• Link de acesso: http://repositorio.bc.ufg.br/tede/handle/tede/5654

Keratoconus is a non-inflammatory ocular dysfunction characterized by thinning, protrusion and conical shape of the cornea. The progression of this dysfunction leads to significant decrease in visual acuity and occasionally, in more severe cases, to corneal transplantation. The etiology of keratoconus is complex and the genetic component is among the main factors associated with the development of this disease. The objective of this study was to evaluate the occurrence of mutation in candidate genetic loci and its relation with keratoconus in patients attended in Brazil compared to healthy volunteers, through analysis of single nucleotide polymorphism in the gene DOCK9. In this clinical study, 108 participants were evaluated: 46 keratoconus patients and 62 healthy volunteers (controls). DNA samples were extracted from collected blood from keratoconus patients and controls. The genotyping of the single nucleotide polymorphism rs7995432 in the gene DOCK9 was determined through realtime polymerase chain reaction (qPCR). Single nucleotide polymorphism mutations were observed in both patients and controls. There were no significant differences on the frequency and discrimination of the mutant and wild alleles between patients and controls. The frequency of the mutant allele (C) was 4.8% in patients and 7.6% in controls. For the wild allele (T), the frequencies were 95.2% in patients and 92.4% in controls. The heterozygous genotype was present in 9.5% of patients and 11% of controls, while the homozygous genotype for the wild allele (TT) was found in 90.5% and 87% for patients and controls, respectively. Thus, these results confirm no association of these mutations and the occurrence of keratoconus for this population.