title: [Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family].
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.
  
  
  CONCLUSIONS
  The mutation G485A found in keratin 9 gene is the disease-causing mutation in the diffuse palmoplantar keratoderma family.
authors.affiliation: National Laboratory of Medical Genetics of China, Central South University, Changsha, China. nlmgley@xysm.net
authors.forename: Xia
authors.initials: X
authors.lastname: Sun
authors.forename: Xin-Zhen
authors.initials: XZ
authors.lastname: Yin
authors.forename: Ling-Qian
authors.initials: LQ
authors.lastname: Wu
authors.forename: Xiao-Liu
authors.initials: XL
authors.lastname: Shi
authors.forename: Zheng-Mao
authors.initials: ZM
authors.lastname: Hu
authors.forename: Xiao-Ping
authors.initials: XP
authors.lastname: Liu
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.forename: He-Ping
authors.initials: HP
authors.lastname: Dai
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Jia-Hui
authors.initials: JH
authors.lastname: Xia
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D006579:Heterozygote; D006801:Humans; D007633:Keratins / Q000235:genetics*; D015776:Keratoderma, Palmoplantar, Diffuse / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree
chemical_list: D007633:Keratins