Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family / 中南大学学报(医学版)
Journal of Central South University(Medical Sciences)
;
(12): 521-524, 2005.
Artigo
em Chinês
| WPRIM
| ID: wpr-813515
ABSTRACT
OBJECTIVE@#To identify the gene causing diffuse palmoplantar keratoderma in a Chinese pedigree.@*METHODS@#Four normal individuals and 3 patients in a diffuse palmoplantar keratoderma family and 10 unrelated control samples were recruited. The hotspot of the mutations of keratin 9 gene was analyzed by polymerase chain reaction and direct sequencing.@*RESULTS@#We found a G485A transition in ke ratin 9 gene, resulting in the substitution of glutamine for arginine at codon 162 in this diffuse palmoplantar keratoderma family. The mutation was not found in the 10 unrelated control samples and 4 normal individuals.@*CONCLUSION@#The mutation G485A found in keratin 9 gene is the disease-causing mutation in the diffuse palmoplantar keratoderma family.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Análise Mutacional de DNA
/
Dados de Sequência Molecular
/
Sequência de Bases
/
Ceratodermia Palmar e Plantar Difusa
/
Genética
/
Heterozigoto
/
Queratinas
/
Mutação
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Journal of Central South University(Medical Sciences)
Ano de publicação:
2005
Tipo de documento:
Artigo
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