关键词: 表皮松解性掌跖角化病, KRT9基因, 基因突变检测, 生物信息学分析

Abstract: Objective: To detect the mutations and perform bioinformatical analysis of KRT9 gene in a pedigree with epidermolytic palmoplantar keratoderma. Methods: Genomic DNA was abstracted from peripheral blood of all patients, normal persons in the pedigree and 100 unrelated healthy controls. All exons of KRT9 gene were amplified by polymerase chain reaction (PCR) and the products were sequenced subsequently. The PCR results were compared with the database. Structural and functional analysis were performed via bioinformatical software. Results: One hot-spot missense mutation c.487C>T was identified in Exon 1 of KRT9, which was not detected in normal persons in the pedigree and healthy controls. Bioinformatical analyses indicated the mutation changed the global secondary structure and physicochemical property. Functional annotation revealed a probable negative influence on the biological function of KRT9 protein.Conclusion: One hot-spot mutation is identified, which may play a role in the pathogenesis of epidermolytic palmoplantar keratoderma.

Key words: epidermolytic palmoplantar keratoderma, KRT9 gene, gene mutation detection, bioinformatical analysis