[Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family]

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2005 Oct;30(5):521-4.
[Article in 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.

Publication types

  • English Abstract

MeSH terms

  • Base Sequence
  • DNA Mutational Analysis
  • Female
  • Heterozygote*
  • Humans
  • Keratins / genetics*
  • Keratoderma, Palmoplantar, Diffuse / genetics*
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Pedigree

Substances

  • Keratins