中华皮肤科杂志 ›› 2005, Vol. 38 ›› Issue (7): 403-405.

• 论著 •    下一篇

伴丘疹性损害的先天性无毛症一例及其基因突变的研究

黄伟苹1, 杨勇2, 顾军1, 李颂2, 徐哲3, 陈明1   

  1. 1. 第二军医大学长海医院皮肤科 上海 200433;
    2. 北京大学第一医院皮肤科;
    3. 北京儿童医院皮肤科
  • 收稿日期:2004-07-03 发布日期:2005-07-15
  • 通讯作者: 顾军, E-mail:gujun01@medmail.com.cn E-mail:gujun01@medmail.com.cn

Hairless Gene Mutations in a Sporadic Case of Atrichia with Papular Lesions

HUANG Wei-ping1, YANG Yong2, GU Jun1, LI Song2, XU Zhe3, CHEN Ming1   

  1. Department of Dermatology, Changhai Hospital, The Second Military Medical University, Shanghai 200433, China
  • Received:2004-07-03 Published:2005-07-15

PDF

123

赞

摘要： 目的 研究1例伴丘疹性损害的先天性无毛症患者及其家系中无毛基因的突变情况。方法 取患者皮损进行组织病理检查;提取家系成员的基因组DNA,采用聚合酶链反应扩增无毛基因的全部编码序列并结合DNA直接测序方法,检测患者无毛基因的突变。结果 患者无毛基因存在两处杂合突变:第3外显子的1010位碱基由鸟嘌呤变为腺嘌呤,使第337位氨基酸由甘氨酸突变为天冬氨酸(G337D);第4外显子的1491位碱基由胞嘧啶变为胸腺嘧啶,使第498位氨基酸由谷氨酸突变为终止密码(Q498X)。而其父母及一弟该基因仅存在其中的一处杂合突变。结论 该患者无毛基因中G337D及Q498X两处突变可能使该基因无法编码正常的蛋白,为导致临床表现的特异突变。

关键词: 先天性无毛症, 无毛基因, 突变

Abstract: Objective To identify the hairless gene mutations in a family of atrichia with papular lesions.Methods Skin biopsies were taken from typical lesions for histopathological examination.Genomic DNA was extracted from blood samples of the family members.Complete encoding sequences of hairless gene Dwere detected by polymerase chain reaction (PCR) and DNA sequencing.Results Compound heterozygous mutations were identified in the patient:G337D in exon 3 and Q498X in exon 4.There was only one of the mutations in his parents and a younger brother.Conclusions G337D and Q498X mutations in hairless gene seem to be responsible for the phenotypes in the patient suffered from atrichia with papular lesions.

Key words: Congenital atrichia, Hairless gene, Mutation