Mutation analysis of the keratin 9 gene in a pedigree with diffuse epidermolytic plamoplantar keratoderma.
- Author:
Ming LI
1
;
Guo-long ZHANG
;
Jian-xin ZHAI
;
Ling WEI
;
Xiao-hong ZHU
;
Xun-yi DAI
;
Li-jia YANG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Child, Preschool; DNA Mutational Analysis; Exons; genetics; Female; Humans; Keratin-9; genetics; Keratoderma, Palmoplantar; genetics; Male; Molecular Diagnostic Techniques; Mutation; Mutation, Missense; Pedigree
- From: Chinese Journal of Medical Genetics 2008;25(4):387-389
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze the mutation of the keratin 9 gene (KRT9) in a pedigree with epidermolytic plamoplantar keratoderma (EPPK).
METHODSBlood samples were obtained from 4 affected and 3 normal individuals in this family. Mutation screening was carried out by polymerase chain reaction (PCR) and direct DNA sequencing.
RESULTSA heterozygous nucleotide C to T transition at position 484 in exon 1 of the KRT9 gene was detected in the 3 affected in this family, but was not found in normal individuals in the family and 100 unrelated individuals.
CONCLUSIONA missense mutation (484 C to T) in the KRT9 gene has been detected in this EPPK family, which is probably one of the molecular bases of the pathogenesis of the disease.
