Full text
| |
| Author(s): |
Denise Perone
Total Authors: 1
|
| Document type: | Doctoral Thesis |
| Press: | São Paulo. |
| Institution: | Universidade de São Paulo (USP). Faculdade de Medicina (FM/SBD) |
| Defense date: | 2005-03-10 |
| Examining board members: |
Geraldo Antonio de Medeiros Neto;
Tânia Aparecida Sartori Sanchez Bachega;
Reinaldo Perrone Furlanetto;
Meyer Knobel;
Carlos Alberto Longui
|
| Advisor: | Geraldo Antonio de Medeiros Neto; Célia Regina Nogueira |
| Abstract | |
We studied 32 children with hypothyrodism (CH) from thyroid agenesis or ectopia for PAX8 mutations, and 30 children with thyroid hypoplasia for rTSH mutations. All exons of both genes were amplified from the genomic DNA, then sequenced directly. We found two alterations in the PAX8 gene in two patients, one in the promoter and the other in exon one. The other children had normal sequences in both PAX8 and rTSH genes. In relation to functional character and luciferase assays, we verified that transcriptional response was significantly reduced in the presence of TSH by a cAMP dependant mechanism (AU) | |