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Master's Dissertation
DOI
10.11606/D.23.2007.tde-10042007-131545
Document
Author
Full name
Lineu Perrone Junior
E-mail
Institute/School/College
Knowledge Area
Date of Defense
Published
São Paulo, 2007
Supervisor
Committee
Mantesso, Andrea (President)
Magalhães, Marina Helena Cury Gallottini de
Tucci, Renata
Title in Portuguese
"Estudo de mutações nos genes HOXA1 e HOXB1 em pacientes com síndrome de Moebius"
Keywords in Portuguese
HOXA1
HOXB1
Sindrome de Moebius
Abstract in Portuguese
A Síndrome de Moebius é caracterizada principalmente pela falta de mobilidade dos músculos da face e abdução dos olhos, conferindo ao paciente um aspecto de face em máscara devido a um comprometimento na formação das estruturas neuromusculares. A sua causa primária permanece desconhecida e várias teorias foram propostas, entre elas a teoria genética. Nesse sentido, o gene HOXB1 localizado no cromossomo 17 é um possível candidato à alteração, uma vez que em modelo animal, quando esse gene está mutado, os animais exibem o fenótipo bastante semelhante aos pacientes portadores da Síndrome de Moebius, pois perdem a mobilidade da musculatura facial. Assim sendo, este projeto propõe analisar, utilizando técnicas de amplificação e seqüenciamento de DNA, possíveis mutações no gene HOXB1 e em seu parálogo HOXA1 em pacientes portadores da Síndrome de Moebius. Palavras-chave: Síndrome de Moebius; HOXA1; HOXB1.
Title in English
Mutational analysis study of HOXA1 and HOXB1 in MOEBIUS SYNDROME patients
Keywords in English
HOXA1
HOXB1
Moebius Syndrome
Abstract in English
The Moebius Syndrome is characterized by the absence of facial and eyes mobility due to the underdevelopment of facial nerves and muscles causing a face-like mask in the compromised patients. The primary cause still need to be identified, however, different hypothesis have been established including a possible genetic alteration. The HOXB1 gene, located in the chromosome 17 is a possible candidate, since when it was mutated in animals; the phenotype found closely resembles features of clinical profile associated with humans suffering from Moebius Syndrome. Therefore, the aim of this study was to analyze possible mutations in the HOXB1 and in its paralogue HOXA1 in patients with the Moebius Syndrome.
 
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LineuPerroneJunior.pdf (10.39 Mbytes)
Publishing Date
2007-06-15
 
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