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Doctoral Thesis
DOI
10.11606/T.5.2005.tde-05082005-125433
Document
Author
Full name
Denise Perone
E-mail
Institute/School/College
Knowledge Area
Date of Defense
Published
São Paulo, 2004
Supervisor
Committee
Medeiros Neto, Geraldo Antonio de (President)
Bachega, Tânia Aparecida Sartori Sanchez
Furlanetto, Reinaldo Perrone
Knobel, Meyer
Longui, Carlos Alberto
Title in Portuguese
"Avaliação do envolvimento dos genes PAX8 e rTSH no hipotireoidismo congênito em pacientes com disgenesia tireoidiana"
Keywords in Portuguese
EXONS/genética
HIPOTIREOIDISMO/congênito
RECEPTORES DA TIROTROPINA/análise
RETARDO MENTAL/diagnóstico
Abstract in Portuguese
Estudamos 32 crianças com HC devido à agenesia ou ectopia tireoideana para mutações no PAX8 e 30 crianças com hipoplasia da tireóide para mutações no rTSH. Todos os exons de ambos os genes foram amplificados a partir do DNA genômico, seguido por seqüenciamento direto. Encontramos, em dois pacientes com ectopia, duas alterações no gene PAX8, uma no promotor, e outra no exon um. Os outros indivíduos estudados apresentaram as seqüências codificáveis dos genes PAX8 e rTSH normais. Em relação ao caráter funcional e ensaios de luciferase verificamos que no promotor a resposta transcricional diminuiu significativamente na presença de TSH, por um mecanismo dependente de cAMP
Title in English
PAX8 and rTSH genes involvement in congenital hypothyrodism in patients with thyroid dysgenesis
Keywords in English
EXONS/genetics
HYPOTHYROIDISM/congenital
MENTAL RETARDATION/diagnosis
RECEPTORS
THYROTROPIN/analysis
Abstract in English
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
 
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DenisePerone.pdf (960.72 Kbytes)
Publishing Date
2005-08-08
 
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