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
in Chinese
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
DNA Mutational Analysis
/
Molecular Sequence Data
/
Base Sequence
/
Keratoderma, Palmoplantar, Diffuse
/
Genetics
/
Heterozygote
/
Keratins
/
Mutation
Limits:
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Journal of Central South University(Medical Sciences)
Year:
2005
Type:
Article
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