Analysis of human transforming growth factor beta-induced gene mutation in corneal dystrophy / 中华医学杂志(英文版)
Chinese Medical Journal
;
(24): 1418-1421, 2004.
Artigo
em Inglês
| WPRIM
| ID: wpr-291909
ABSTRACT
<p><b>BACKGROUND</b>Corneal dystrophy is a group of inherited blinding diseases of the cornea. This study was to identify the mutations of the keratoepithelin (KE) gene for proper diagnosis of corneal dystrophy.</p><p><b>METHODS</b>Three families with corneal dystrophy were analysed. Thirteen individuals at risk for corneal dystrophy in family A, the proband and her son in family B, and the proband in family C were examined after their blood samples were obtained. Mutation screening of human transforming growth factor beta-induced gene (BIGH3 gene) was performed.</p><p><b>RESULTS</b>Five individuals in family A were found by clinical evaluation to be affected with granular corneal dystrophy and carried the BIGH3 mutation W555R. However, both probands in families B and C, also diagnosed with granular corneal dystrophy, harboured the BIGH3 mutation R124H.</p><p><b>CONCLUSION</b>Molecular genetic analysis can improve accurate diagnosis of corneal dystrophy.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Patologia
/
Distrofias Hereditárias da Córnea
/
Proteínas da Matriz Extracelular
/
Fator de Crescimento Transformador beta
/
Genética
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Adolescente
/
Adulto
/
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Chinese Medical Journal
Ano de publicação:
2004
Tipo de documento:
Artigo
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