TGFBI gene mutations in three Chinese families with autosomal dominant corneal dystrophy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 179-182, 2009.
Artigo
em Chinês
| WPRIM
| ID: wpr-287429
ABSTRACT
<p><b>OBJECTIVE</b>To screen the transforming growth factor, beta-induced (TGFBI) gene mutation in three Chinese families with autosomal dominant corneal dystrophy.</p><p><b>METHODS</b>Analysis of the TGFBI gene mutations was performed by direct sequencing of the whole coding regions and exon-intron boundaries of the TGFBI gene in all affected members from the three families.</p><p><b>RESULTS</b>Three kinds of TGFBI gene mutations, R124C and H626R were detected in the patients of the two lattice conneal dystrophy families, and R124H was detected in the Avellino corneal dystrophy family.</p><p><b>CONCLUSION</b>TGFBI gene mutations are the underlying molecular mechanism of the pathogenesis for corneal dystrophy. The R124 and H626 are the hot spots of TGFBI gene mutation in this disease.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Patologia
/
Linhagem
/
Análise Mutacional de DNA
/
Fatores de Crescimento Transformadores
/
Distrofias Hereditárias da Córnea
/
Saúde da Família
/
Substância Própria
/
Povo Asiático
/
Genética
/
Mutação
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2009
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS