中华皮肤科杂志 ›› 2005, Vol. 38 ›› Issue (11): 668-670.

• 论著 • 上一篇    下一篇

一例伴丘疹性损害的先天性无毛症患者的基因突变研究

张莉, 王震英, 魏欣净, 刘晨帆   

  1. 山东省立医院皮肤性病科, 济南 250021
  • 收稿日期:2005-07-11 发布日期:2005-11-15

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

ZHANG Li, WANG Zhen-ying, WEI Xin-jing, LIU Chen-fan   

  1. Department of Dermatology, Shandong Provincial Hospital, Jinan 250021, China
  • Received:2005-07-11 Published:2005-11-15

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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.

关键词: 先天性无毛症, 突变

Abstract: 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 CJB6 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, CJB6 or CDSN gene in this family affected by congenital APL.

Key words: Congenital atrichia, Mutation