R240X mutation of the PAX6 gene in a Chinese family with congenital aniridia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 546-549, 2009.
Article
em Zh
| WPRIM
| ID: wpr-287377
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To study the PAX6 gene mutation in a Chinese pedigree with congenital aniridia.</p><p><b>METHODS</b>Linkage analysis was performed to the Chinese family with congenital aniridia using two microsatellite markers D11S904 and D11S935. Analysis of the PAX6 gene mutation was done by direct sequencing of the whole coding region and exon-intron boundaries of the PAX6 gene in all affected and unaffected individuals in the family.</p><p><b>RESULTS</b>The significant Lod Score of 3.01 was acquired at D11S935. Direct DNA sequence analysis identified a 1080C to T change in exon 9 of the patients, resulting in an Arginine substitution by a stop codon at codon 240 of the PAX6 gene, which was absent in the unaffected individuals in the family and 100 normal controls.</p><p><b>CONCLUSION</b>Our results indicate that mutation p.Arg240Ter of the PAX6 is the genetic basis of the Chinese family with congenital aniridia.</p>
Texto completo:
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Base de dados:
WPRIM
Assunto principal:
Linhagem
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Proteínas Repressoras
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Dados de Sequência Molecular
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Sequência de Bases
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Aniridia
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Proteínas de Homeodomínio
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Códon sem Sentido
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Repetições de Microssatélites
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Povo Asiático
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Fatores de Transcrição Box Pareados
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
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Adult
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Aged
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Female
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Humans
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Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2009
Tipo de documento:
Article