| Full text | |
| Author(s): |
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
Total Authors: 8
|
| Document type: | Journal article |
| Source: | CASE REPORTS IN DENTISTRY; v. 2014, p. 5-pg., 2014-01-01. |
| Abstract | |
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) | |
| FAPESP's process: | 08/08927-8 - Screening of mutation in the genes IRF6, MSX1 and PAX9 in subjects with cleft lip and palate and tooth agenesis |
| Grantee: | Carlos Ferreira dos Santos |
| Support Opportunities: | Regular Research Grants |
| FAPESP's process: | 09/12289-0 - Genetic study of AMELX and ENAM gene mutations on dental malformations of patients with and without cleft lip and palate |
| Grantee: | Fernanda Veronese de Oliveira |
| Support Opportunities: | Scholarships in Brazil - Master |
| FAPESP's process: | 09/12233-4 - Genetic study of AMELX and ENAM gene mutations on dental malformations of patients with and without cleft lip and palate |
| Grantee: | Thais Marchini de Oliveira Valarelli |
| Support Opportunities: | Regular Research Grants |