Two novel mutations of the retinitis pigmentosa GTPase regulator gene in two Chinese families with X-linked retinitis pigmentosa / 中华医学杂志(英文版)
Chinese Medical Journal
;
(24): 833-836, 2002.
Artigo
em Inglês
| WPRIM
| ID: wpr-302293
ABSTRACT
<p><b>OBJECTIVE</b>To detect mutations of the retinitis pigmentosa GTPase regulator (RPGR) gene in two Chinese X-linked retinitis pigmentosa families.</p><p><b>METHODS</b>Fragments of exons 1-19 of the RPGR gene were amplified with intronic primers, using genomic DNA as template. The polymerase chain reaction (PCR) products were analysed by single-strand conformation polymorphism (SSCP) and direct sequencing. Mutations were identified by comparing DNA sequences of the patients with those of the normal controls.</p><p><b>RESULTS</b>Two novel mutations, c1536delC and E332X, were identified in exons 12 and 9 of the RPGR gene in both families. Each mutation was the first mutation found in their respective exons. Both mutations were predicted to cause premature termination, which resulted in truncated proteins without normal functions of the RPGR products.</p><p><b>CONCLUSIONS</b>Both mutations are the genetic basis of the pathogenesis in the respective families. Our data might be helpful in analysing the function of the RPGR protein.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Cromossomo X
/
Proteínas de Transporte
/
Retinose Pigmentar
/
Reação em Cadeia da Polimerase
/
Análise de Sequência de DNA
/
Polimorfismo Conformacional de Fita Simples
/
Proteínas do Olho
/
Genética
/
Ligação Genética
/
Mutação
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Chinese Medical Journal
Ano de publicação:
2002
Tipo de documento:
Artigo
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