[Mutation analysis of keratin 9 gene in a pedigree with epidermolytic palmoplantar keratoderma].
OBJECTIVE
To identify mutations of keratin 9 (KRT9) gene in a big Chinese family with epidermolytic palmoplantar keratoderma(EPPK) combined with knuckle-pad-like lesions and nail lesions.


METHODS
Genomic DNA from peripheral blood of all available members in this family and 50 unrelated healthy individuals was used for amplification of the whole coding sequence and the intron-exon boundaries of KRT9 gene by PCR; The mutation was detected by direct sequence analysis and identified by restriction endonuclease Dde I.


RESULTS
A mutation of AAT>AGT at codon 160 (N160S) was found in all patients but not in unaffected family members and 50 controls.


CONCLUSIONS
The mutation of AAT>AGT at codon 160 (N160S) is the disease-causing mutation in this Chinese pedigree with EPPK.
Zhang
Bao-rong
BR
Department of Neurology, the Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang, 310009 P. R. China. brzhang@zju.edu.cn
Yin
Xin-zhen
XZ
Xia
Kun
K
Ding
Mei-ping
MP
Hu
Zheng-mao
ZM
Zheng
Min
M
Liu
Zhi-rong
ZR
Xia
Jia-hui
JH
D044466:Asian People; D003062:Codon; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007633:Keratins / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction
D003062:Codon; D007633:Keratins; D004247:DNA