屈侧网状色素异常一家系角蛋白5基因突变研究  

KRT5 gene mutation analysis in a Chinese pedigree of Dowling - Degos disease

作　　者：鲁楠[1] 李晶辉[1] 刘红[1] 付希安[1] 施仲香[1] 周桂芝[1] 于永翔[1] 张福仁[1] 

机构地区：[1]山东省皮肤病医院,济南250022

出　　处：《中国麻风皮肤病杂志》2012年第2期79-81,共3页China Journal of Leprosy and Skin Diseases

摘　　要：目的:检测一屈侧网状色素异常(DDD)患者家系基因突变。方法:应用聚合酶链反应(PCR)扩增患者外周血基因组DNA KRT5基因的所有9个外显子及邻近内含子区域,对其产物直接测序和序列分析基因突变。结果:该家系2例患者及家系中1位正常人KRT5基因6号内含子检测到1个新的SNP在外显子区域均未检测到致病基因突变。结论:该家系的致病突变未在KRT5基因所有外显子及邻近区域,其致病突变基因有待进一步研究。Objective： To investigate KRT5 gene mutation in a pedigree with autosomal dominant Dowling- Degos disease （DDD）. Methods： All nine exons and their flanking intronic sequence of KRT5 gene were amplified by polymerase chain reaction, and then, subjected to automatic DNA sequencing. Results： Only one variation was found but the pathogenic mutation was not found in mutation hot spots and other exons and their flanking intronic se- quences of this gene. Conclusion： The mutation which causes Dowling - Degos disease in this family is not located in the exons of KRT5 gene.

关 键 词：屈侧网状色素异常 突变 KRT5基因 

分 类 号：R758.54[医药卫生—皮肤病学与性病学]