Mestrado em Ciências Biológicas (ICB)
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Navegando Mestrado em Ciências Biológicas (ICB) por Por Orientador "Bicudo, Lucilene Arilho Ribeiro"
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Item Análise mutacional dos genes IRF6 e GRHL3 em indivíduos portadores de fissuras de lábio e/ou palato não sindrômicas(Universidade Federal de Goiás, 2016-10-26) Maranhão, Betânia Severino da Silva; Arruda, Jalsi Tacon; http://lattes.cnpq.br/2625735490014592; Bicudo, Lucilene Arilho Ribeiro; http://lattes.cnpq.br/6837561883041187; Bicudo, Lucilene Arilho Ribeiro; http://lattes.cnpq.br/6837561883041187; Bérgamo, Nádia Aparecida; Araujo, Juliana Forte Mazzeu deCleft 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.Item Caracterização genético/clínica de pacientes com suspeita da síndrome de Williams-Beuren (SWB) no centro- oeste brasileiro(Universidade Federal de Goiás, 2019-08-27) Oliveira, Fernanda Ramos Barbosa de; Gamba, Bruno Faulin; http://lattes.cnpq.br/5860098764942123; Bicudo, Lucilene Arilho Ribeiro; http://lattes.cnpq.br/6837561883041187; Bicudo, Lucilene Arilho Ribeiro; Bérgamo, Nádia Aparecida; Silva, Daniela de Melo eWilliams-Beuren syndrome (WBS) is due to a hemizygous deletion of approximately 1.5Mb to 1.8Mb in the region of chromosome 7 (7q11.23) and causes a disease of rare and multisystem genetic profile. Typical faces, congenital heart disease, connective tissue disorders combined with learning deficit and differentiated growth, personality and cognitive profile make up the set of clinical signs that characterize SWB. Genetic etiology comprises a region of 28 single copy genes, linked to two repetitive regions (LCR - Low Copy Repeats). Molecular cytogenetic testing (fluorescent in situ hybridization or FISH) is used as the gold standard to confirm deletion of a copy of the elastin gene. Occasionally, inherited transmission to offspring is observed in an autosomal dominant manner, but there are a large number of cases due to sporadic mutations. This study included 15 patients with clinical diagnosis of WBS belonging to the WBS Goiana Association (AGSW). The clinical evaluation showed that 13 individuals (86%) had clinical characteristics for performing FISH and 2 patients (13%) did not have enough physical symptoms, fitting a dubious diagnosis for WBS. FISH demonstrated 13 patients with deletion in the elastin gene and 2 patients without this deletion, so there was agreement between the indicative clinical profile for the cytogenetic test and a positive FISH. For patients with negative FISH, we applied the technique of arrayCGH and conventional banding, which also showed no change. The present study allowed us to investigate the clinical characteristics of Brazilian Midwest patients with suspected WBS associated or not with a positive diagnosis by FISH or arrayCGH, as well as to establish the frequency of clinical signs of the syndrome. In addition, our study allowed specific coupling of newer genomic techniques with more traditional research methods, increasing the genetic understanding involved in WBS.