Mutation analysis of the keratin 9 gene in a pedigree with diffuse epidermolytic plamoplantar keratoderma / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 387-389, 2008.
Article
em Zh
| WPRIM
| ID: wpr-308057
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To analyze the mutation of the keratin 9 gene (KRT9) in a pedigree with epidermolytic plamoplantar keratoderma (EPPK).</p><p><b>METHODS</b>Blood samples were obtained from 4 affected and 3 normal individuals in this family. Mutation screening was carried out by polymerase chain reaction (PCR) and direct DNA sequencing.</p><p><b>RESULTS</b>A heterozygous nucleotide C to T transition at position 484 in exon 1 of the KRT9 gene was detected in the 3 affected in this family, but was not found in normal individuals in the family and 100 unrelated individuals.</p><p><b>CONCLUSION</b>A missense mutation (484 C to T) in the KRT9 gene has been detected in this EPPK family, which is probably one of the molecular bases of the pathogenesis of the disease.</p>
Texto completo:
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Índice:
WPRIM
Assunto principal:
Linhagem
/
Análise Mutacional de DNA
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Éxons
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Ceratodermia Palmar e Plantar
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Mutação de Sentido Incorreto
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Técnicas de Diagnóstico Molecular
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Queratina-9
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Genética
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Mutação
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
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Child, preschool
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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:
2008
Tipo de documento:
Article