title: [Mutation analysis of keratin 9 gene in a pedigree with epidermolytic palmoplantar keratoderma].
abstract: 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.
authors.affiliation: Department of Neurology, the Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang, 310009 P. R. China. brzhang@zju.edu.cn
authors.forename: Bao-rong
authors.initials: BR
authors.lastname: Zhang
authors.forename: Xin-zhen
authors.initials: XZ
authors.lastname: Yin
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Mei-ping
authors.initials: MP
authors.lastname: Ding
authors.forename: Zheng-mao
authors.initials: ZM
authors.lastname: Hu
authors.forename: Min
authors.initials: M
authors.lastname: Zheng
authors.forename: Zhi-rong
authors.initials: ZR
authors.lastname: Liu
authors.forename: Jia-hui
authors.initials: JH
authors.lastname: Xia
mesh_terms: 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
chemical_list: D003062:Codon; D007633:Keratins; D004247:DNA