atrichia with papular lesions,HR gene,Sanger sequencing ,"/> 伴丘疹性损害的先天性无毛症一例HR基因突变检测

中国麻风皮肤病杂志 ›› 2020, Vol. 36 ›› Issue (1): 13-15.doi: 10.12144/zgmfskin202001013

• 论著 • 上一篇    下一篇

伴丘疹性损害的先天性无毛症一例HR基因突变检测

刘伟英1，高贵云1，郑璐瑶2，李明2   

  1. 1湖南航天医院皮肤科，长沙，410205；2上海交通大学医学院附属新华医院皮肤科，上海，200092
  • 出版日期:2020-01-15 发布日期:2020-03-16
  • 通讯作者: 刘伟英，E-mail: ww00100@163.com；李明，E-mail：aypyslm@163.com

Mutation analysis of hairless gene in one patient with atrichia and papular lesions

LIU Weiying1, GAO Guiyun1, ZHENG Luyao2, LI Ming2   

  1. 1 Department of Dermatology, Hunan Aerospace Hospital, Changsha 410205, China; 2 Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China
  • Online:2020-01-15 Published:2020-03-16
  • Contact: LIU Weiying, E-mail: ww00100@163.com；LI Ming, E-mail: aypyslm@163.com

PDF (PC)

79

摘要： 目的：对一例散发的伴丘疹损害的先天性无毛症(APL)患儿进行Hairless(HR)基因突变检测。方法：提取患儿及其表型正常父母的血液样本DNA，采用Sanger测序法检测APL患儿HR基因突变。结果：测序结果显示患儿HR基因存在复合杂合突变，分别为位于第10号外显子的新的移码突变c.2270delC和位于第15号外显子内的新的错义突变c.3038 T>C。以上两种突变在100名健康对照中均未发现。结论：在该患者中检测到了HR基因的突变，其产物无毛蛋白的缺失或者功能减退可能是导致该患者发病的原因。

关键词: 伴丘疹性损害的先天性无毛症, HR基因, Sanger测序

Abstract: Objective: To detect the Hairless (HR) gene mutation in one child affected with atrichia with papular lesions (APL). Methods: DNA was extracted from the child and her unaffected parents. HR gene mutations were detected by Sanger sequencing. Results: Compound heterozygous mutations of  HR gene were identified in the patient, including a novel frame shift mutation in exon 10, c.2270delC, and a novel missense mutation in exon 15, c.3038 T>C. Both of the mutations were not found in 100 unrelated controls. Conclusion: The HR mutations may result in the loss of  HR protein function, leading to APL.

Key words: atrichia with papular lesions')">

atrichia with papular lesions, HR gene, Sanger sequencing