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.
Artigo
em Chinês
| WPRIM
| ID: wpr-308057
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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Análise Mutacional de DNA
/
Éxons
/
Ceratodermia Palmar e Plantar
/
Mutação de Sentido Incorreto
/
Técnicas de Diagnóstico Molecular
/
Queratina-9
/
Genética
/
Mutação
Tipo de estudo:
Estudo diagnóstico
Limite:
Adulto
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2008
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS