一例伴丘疹性损害的先天性无毛症患者的基因突变研究  

Detection of Gene Mutations in a Family of Congenital Atrichia with Papular Lesions

作　　者：张莉[1] 王震英[1] 魏欣净[1] 刘晨帆[1] 

机构地区：[1]山东省立医院皮肤性病科,济南250021

出　　处：《中华皮肤科杂志》2005年第11期668-670,共3页Chinese Journal of Dermatology

摘　　要：目的研究1例伴丘疹性损害的先天性无毛症患者基因突变情况。方法采用PCR和 DNA直接测序法检测伴丘疹性损害的先天性无毛症HR基因的突变。同时对2个与秃发相关的基因 GJB6和CDSN基因进行突变检测。结果在HR基因、GJB6基因和CDSN基因所检测的区域中均未检测到突变。在HR基因和CDSN基因上发现了数处单核苷酸多态性(SNP)。结论在该伴丘疹性损害的先天性无毛症家庭中未检测到HR、GJB6和CDSN基因的突变。Objective To detect gene mutations in a family of congenital atrichia with papular lesions （APL）. Methods Polymerase chain reaction and DNA sequencing were used to search for mutations in the HR gene （a causative gene of APL）, the GJB6 gene, and the CDSN gene. Results No mutation was found in these three genes except for single nucleotide polymorphisms （SNPs） in the HR and CDSN genes. Conclusion No mutation is identified in the HR, GJB6 or CDSN gene in this family affected by congenital APL.

关 键 词：丘疹性损害 先天性无毛症 基因突变 病例报告 组织病理学 

分 类 号：R758.7[医药卫生—皮肤病学与性病学]