Identification of a novel PAX6 mutation in a family with congenital aniridia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 579-581, 2013.
Artigo
em Chinês
| WPRIM
| ID: wpr-237203
ABSTRACT
<p><b>OBJECTIVE</b>To detect potential mutation in a Chinese family where two individuals were affected with hereditary congenital aniridia.</p><p><b>METHODS</b>Peripheral blood samples were taken for genomic DNA extraction. All of the 15 exons of PAX6 gene were amplified with PCR. The product were purified with gel electrophoresis and sequenced.</p><p><b>RESULTS</b>In both patients, a novel deletion mutation (c.957-958delCA) in exon 13 of the PAX6 gene was identified, which has produced a terminator codon. The same mutation was not found in healthy controls.</p><p><b>CONCLUSION</b>A c.957-958delCA mutation of PAX6 gene is probably the cause of aniridia in this Chinese family.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Proteínas Repressoras
/
Dados de Sequência Molecular
/
Sequência de Bases
/
Aniridia
/
Éxons
/
Deleção de Sequência
/
Proteínas de Homeodomínio
/
Povo Asiático
/
Fatores de Transcrição Box Pareados
Tipo de estudo:
Estudo prognóstico
Limite:
Adulto
/
Criança
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2013
Tipo de documento:
Artigo
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