A novel mutation of the PAX6 gene in a Chinese family with aniridia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 376-380, 2010.
Artigo
em Chinês
| WPRIM
| ID: wpr-234401
ABSTRACT
<p><b>OBJECTIVE</b>The PAX6 gene encodes a transcriptional regulator involved in oculogenesis and other developmental processes such as aniridia, a congenital condition characterized by the underdevelopment of the iris of eyes. The function of the PAX6 gene in these two conditions is still poorly defined. The purpose of this study is to identify the mutation of the PAX6 gene in a Chinese family with aniridia.</p><p><b>METHODS</b>Two aniridia patients collected from the family underwent full ophthalmologic examination. Genomic DNA was prepared from venous leukocytes of the two patients and five healthy individuals in the family, and 100 unrelated healthycontrols. Exons 4-13 and their immediate flanking sequences of the PAX6 gene was analyzed by PCR amplification, direct sequencing, and single-strand conformation polymorphism(SSCP).</p><p><b>RESULTS</b>The sequencing result revealed a novel PAX6 mutation in the two patients. It was a heterozygous mutation (IVS10+1G>A) at the boundary of exon 10 and intron 10. The mutation was also detected by SSCP analysis. It was not detected in the healthy relatives and unrelated controls.</p><p><b>CONCLUSION</b>Aniridia is an autosomal dominant inheritable disease. A novel PAX6 gene mutation has been identified in the Northeastern Chinese family with aniridia. The genetic analysis suggested that this novel mutation in the PAX6 gene is capable of causing the classic aniridia phenotype.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Proteínas Repressoras
/
Sequência de Bases
/
Aniridia
/
Anormalidades do Olho
/
Proteínas de Homeodomínio
/
Povo Asiático
/
Fatores de Transcrição Box Pareados
/
Proteínas do Olho
/
Fator de Transcrição PAX6
Tipo de estudo:
Estudo prognóstico
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2010
Tipo de documento:
Artigo
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