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.
Article
Dans Chinois
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Analyse de mutations d'ADN
/
Données de séquences moléculaires
/
Séquence nucléotidique
/
Kératodermie palmoplantaire diffuse
/
Génétique
/
Hétérozygote
/
Kératines
/
Mutation
Limites du sujet:
Femelle
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Journal of Central South University(Medical Sciences)
Année:
2005
Type:
Article
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