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Updated: Aug 10, 2026

Single Droplet Digital Polymerase Chain Reaction for Comprehensive and Simultaneous Detection of Mutations in Hotspot Regions
Published on: September 25, 2018
[Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family]
Xia Sun1, Xin-Zhen Yin, Ling-Qian Wu
1National Laboratory of Medical Genetics of China, Central South University, Changsha, China. nlmgley@xysm.net
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.
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