Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family.
- Author:
Xia SUN
1
;
Xin-Zhen YIN
;
Ling-Qian WU
;
Xiao-Liu SHI
;
Zheng-Mao HU
;
Xiao-Ping LIU
;
Qian PAN
;
He-Ping DAI
;
Kun XIA
;
Jia-Hui XIA
Author Information
1. National Laboratory of Medical Genetics of China, Central South University, Changsha, China. nlmgley@xysm.net
- Publication Type:Journal Article
- MeSH:
Base Sequence;
DNA Mutational Analysis;
Female;
Heterozygote;
Humans;
Keratins;
genetics;
Keratoderma, Palmoplantar, Diffuse;
genetics;
Male;
Molecular Sequence Data;
Mutation;
Pedigree
- From:
Journal of Central South University(Medical Sciences)
2005;30(5):521-524
- CountryChina
- Language:Chinese
-
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.
