| Texto completo | |
| Autor(es): |
Oliveira, Fernanda Veronese
;
Gurgel, Carla Vecchione
;
Kobayashi, Tatiana Yuriko
;
Dionisio, Thiago Jose
;
Neves, Lucimara Teixeira
;
Santos, Carlos Ferreira
;
Andrade Moreira Machado, Maria Aparecida
;
Oliveira, Thais Marchini
Número total de Autores: 8
|
| Tipo de documento: | Artigo Científico |
| Fonte: | CASE REPORTS IN DENTISTRY; v. 2014, p. 5-pg., 2014-01-01. |
| Resumo | |
The aim of this study was to report the clinical findings and the screening of mutations of amelogenin gene of a 7-year-old boy with amelogenesis imperfecta (AI). The genomic DNA was extracted from saliva of patient and his family, followed by PCR and direct DNA sequencing. The c.261C>T mutation was found in samples of mother, father, and brother, but the mutation was not found in the sequence of the patient. This mutation is a silent mutation and a single-nucleotide polymorphism (rs2106416). Thus, it is suggested that the mutation found was not related to the clinical presence of AI. Further research is necessary to examine larger number of patients and genes related to AI. (AU) | |
| Processo FAPESP: | 08/08927-8 - Triagem de mutação nos genes IRF6, MSX1 e PAX9 em indivíduos com fissura de lábio e palato e agenesia dentária |
| Beneficiário: | Carlos Ferreira dos Santos |
| Modalidade de apoio: | Auxílio à Pesquisa - Regular |
| Processo FAPESP: | 09/12289-0 - Estudo genético da mutação dos genes AMELX e ENAM na malformação dentária de pacientes com e sem fissura labiopalatina |
| Beneficiário: | Fernanda Veronese de Oliveira |
| Modalidade de apoio: | Bolsas no Brasil - Mestrado |
| Processo FAPESP: | 09/12233-4 - Estudo genético da mutação dos genes AMELX e ENAM na malformação dentária de pacientes com e sem fissura labiopalatina |
| Beneficiário: | Thais Marchini de Oliveira Valarelli |
| Modalidade de apoio: | Auxílio à Pesquisa - Regular |