中华皮肤科杂志 ›› 2003, Vol. 36 ›› Issue (10): 553-555.

• 论著 • 上一篇    下一篇

X性连锁少汗性外胚层发育不良家系ED1基因突变检测

陈建军1, 杨森1, 宋映雪1, 熊晓燕2, 张安平1, 何平平1, 高敏1, 李月彬2, 林达1, 黄薇2, 张学军1   

  1. 1. 安徽医科大学皮肤病研究所 合肥 230022;
    2. 国家人类基因组南方研究中心
  • 收稿日期:2002-10-22 出版日期:2003-10-15 发布日期:2003-10-15
  • 基金资助:
    国家十五863计划课题基金资助(编号 2001AA227031);教育部《高校骨干教师资助计划项目》(2000-65)

Mutations in ED1 Gene of Two Pedigrees with X-linked Hypohidrotic Ectodermal Dysplasia

CHEN Jian-jun1, YANG Sen1, SONG Ying-xue1, XIONG Xiao-yan2, ZHANG An-ping1, HE Ping-ping1, GAO Min1, LI Yue-bin2, LIN Da1, HUANG Wei2, ZHANG Xue-jun1   

  1. Institute of Dermatology, Anhui Medical University, Hefei 230022, China
  • Received:2002-10-22 Online:2003-10-15 Published:2003-10-15

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摘要： 目的 探讨X性连锁少汗性外胚层发育不良(XLHED)家系中ED1基因突变。方法 收集2个X性连锁少汗性外胚层发育不良家系外周血标本;采用聚合酶链反应(PCR)结合DNA直接双向测序的方法。结果 家系1中ED1基因的第8个外显子下游与内含子8交界处存在一个新的剪接点缺失突变(IVS8+5 del G)。家系2中第9个外显子处存在一个错义突变(A959G)。这些突变未在两个家系的正常人及188例无关正常对照者中出现。结论 中国人ED1基因突变可引起XLHED,且IVS8+5del G为一个新的突变。

关键词: 外胚层发育不良症, DNA突变分析, 基因缺失, ED1基因

Abstract: Objective To detect ED1 gene mutations in the families with X-linked hypohidrotic ec-todermal dysplasia (XLHED). Methods Blood samples were obtained from 2 pedigrees. All 8 exons and flanking intronic boundaries of ED1 gene were amplified with polymerase chain reaction technique and then directly sequenced. Results Two mutations were found in ED1 gene. One was splicing mutation (IVS8+5 del G), the other was missense mutation (A959G). None of the mutations was found in normal individuals of two XLHED families and in 188 unrelated, population-matched control individuals. Conclusion Out of the ED1 gene mutations identified in 2 Chinese XLHED families, IVS8+5del G is a novel mutation.

Key words: DNA mutation analysis, Gene deletion, ED1 gene, Ectodermal dysplasia