表皮松解性掌跖角化病一家系KRT9基因突变检测及生物信息学分析  

Gene mutation detection and bioinformatical analysis of Keratin9-gene in one pedigree of epidermolytic palmoplantar keratoderma

作　　者：汤庄力 王添 肖生祥[1] 王晓鹏[1] 

机构地区：[1]西安交通大学第二附属医院,陕西西安710004

出　　处：《中国麻风皮肤病杂志》2017年第12期709-711,716,共4页China Journal of Leprosy and Skin Diseases

摘　　要：目的:检测表皮松解性掌跖角化病1家系KRT9基因突变情况并进行生物信息学分析。方法:提取家系患者、正常人及100名健康志愿者外周血DNA,采用聚合酶链式反应(PCR)扩增KRT9基因全部外显子并测序。与数据库比对测序结果,运用生物信息学软件进行突变型蛋白质结构及功能预测分析。结果:患者KRT9基因1号外显子内检测到一处c.487C>T错义突变(p.163R>W),家族未患病成员以及100名正常对照中未发现突变。生物信息学分析提示该突变会导致蛋白质二级结构和理化性质改变,功能分析提示该突变会改变蛋白质生物功能。结论:本家系检测到1个KRT9基因的热点突变,该突变对于疾病发生发展可能具有较大作用。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. 487 C 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.

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 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]