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

AbstractOBJECTIVE:
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.
AuthorsXia Sun, Xin-Zhen Yin, Ling-Qian Wu, Xiao-Liu Shi, Zheng-Mao Hu, Xiao-Ping Liu, Qian Pan, He-Ping Dai, Kun Xia, Jia-Hui Xia
JournalZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences (Zhong Nan Da Xue Xue Bao Yi Xue Ban) Vol. 30 Issue 5 Pg. 521-4 (Oct 2005) ISSN: 1672-7347 [Print] China
PMID16320579 (Publication Type: English Abstract, Journal Article)
Chemical References
  • Keratins
Topics
  • Base Sequence
  • DNA Mutational Analysis
  • Female
  • Heterozygote
  • Humans
  • Keratins (genetics)
  • Keratoderma, Palmoplantar, Diffuse (genetics)
  • Male
  • Molecular Sequence Data
  • Mutation
  • Pedigree

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