Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family / 中南大学学报(医学版)
Zhongnan Daxue xuebao. Yixue ban
; (12): 521-524, 2005.
Article
en Zh
| WPRIM
| ID: wpr-813515
Biblioteca responsable:
WPRO
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:
1
Base de datos:
WPRIM
Asunto principal:
Linaje
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Análisis Mutacional de ADN
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Datos de Secuencia Molecular
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Secuencia de Bases
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Queratodermia Palmar y Plantar Difusa
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Genética
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Heterocigoto
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Queratinas
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Mutación
Límite:
Female
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Humans
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Male
Idioma:
Zh
Revista:
Zhongnan Daxue xuebao. Yixue ban
Año:
2005
Tipo del documento:
Article