Análise mutacional dos genes IRF6 e GRHL3 em indivíduos portadores de fissuras de lábio e/ou palato não sindrômicas

• Ano de defesa: 2016
• Autor(a) principal: Maranhão, Betânia Severino da Silva
• Orientador(a): Bicudo, Lucilene Arilho Ribeiro
• Banca de defesa: Bicudo, Lucilene Arilho Ribeiro , Bérgamo, Nádia Aparecida, Araujo, Juliana Forte Mazzeu de
• Tipo de documento: Dissertação
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Universidade Federal de Goiás
• Programa de Pós-Graduação: Programa de Pós-graduação em Biologia (ICB)
• Departamento: Instituto de Ciências Biológicas - ICB (RG)
• País: Brasil
• Palavras-chave em Português: Fissura de lábio e/ou palato; Polimorfismo; GRHL3; IRF6; Malformação; MLPA
• Palavras-chave em Inglês: Cleft lip and/or palate; Polymorphism; IRF6; GRHL3; Malformation; MLPA
• Área do conhecimento CNPq: BIOQUIMICA::BIOLOGIA MOLECULAR
• Link de acesso: http://repositorio.bc.ufg.br/tede/handle/tede/8590

Cleft lip and / or palate are birth defects easily recognizable and widely incidents in the human population. The clefts have a complex etiology involving genetic and environmental factors. They are found in approximately 1 in 700 births and have substantial impact on people's lives. Require always, surgery, dental, speech therapy, psychological and cosmetic. Clefts are recognized as a result of a wide rate of developmental disorders. Approximately 2/3 of the cases are not associated with any other abnormality and are called "non syndromic." The etiology of non syndromic oral clefts remains unknown. Preliminary studies suggest the involvement of a variety of genes and / or loci and environmental factors seem to play an important role in the genesis of such cases. Advances in molecular and quantitative analysis provide new opportunities to identify genes and gene-environment interactions relevant to the etiology of this common defect and representative birth. In this study, we analyzed a set of 80 cases of cleft lip and / or palate of non syndromic cases of patients of Associação de Combate as Deformidades Faciais (REFACE), collecting epidemiological and clinical data and biological sample for DNA extraction. The analysis was performed by Multiplex Ligation-dependent Probe Amplification (MLPA) of IRF6 and GRHL3 genes. This study finds only one individual with a duplication of a genomic region of the gene GRHL3, emphasizing the necessity of a larger sample and different geographical regions.