中华皮肤科杂志 ›› 2002, Vol. 35 ›› Issue (5): 380-382.

• 论著 • 上一篇    下一篇

X连锁无汗性外胚叶发育不良家系的基因突变检测

张安平1, 张学军1, 朱文元2   

  1. 1. 安徽医科大学皮肤病研究所, 合肥230022;
    2. 南京医科大学第一附属医院皮肤科
  • 收稿日期:2001-09-24 出版日期:2002-10-15 发布日期:2002-10-15
  • 基金资助:
    国家教育部骨干教师基金资助项目(教技司[2000]号文)

Detection of Gene Mutation in a Pedigree with X-linked Anhidrotic Ectodermal Dysplasia by PCR-SSCP Analysis

ZHANG Anping1, ZHANG Xuejun1, ZHU Wenyuan2   

  1. Institute of Dermatology, Anhui Medical University, Hefei 230022, China
  • Received:2001-09-24 Online:2002-10-15 Published:2002-10-15

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摘要： 目的 鉴定X连锁无汗性外胚叶发育不良(EDA)家系的基因突变及其突变类型,为建立对该病的基因诊断与遗传咨询提供依据。方法 应用聚合酶链反应-单链构象多态性(PCR-SSCP)分析法,结合DNA测序,检测了汉族人X连锁EDA一家系的基因突变位点与突变方式。结果 EDA致病基因(EDA1基因)外显子1的PCR产物经SSCP分析显示,患者及其携带者母亲出现异常单链条带。DNA测序表明,先证者该基因外显子1的第404位碱基胞嘧啶C被鸟嘌呤G颠换,致使EDA蛋白跨膜区第54位组氨酸突变成谷胺酰胺(H54Q),其母亲同一位置碱基呈现C～G杂合双峰。结论 本EDA家系中患者EDA1基因外显子1存在错义突变(404C→G),这可能是导致EDA发病的分子机制之一。

关键词: 外胚层发育不全, 突变

Abstract: Objective To identify the gene mutations and mu tating patterns in a pedigree with X-linked anhidrotic ectodermal dysplasia(EDA)so as to provide a basis for gene diagnosis and genetic counselling of this disorder.Methods Polymerase chain reaction-singl strand conformation polymorphism(PCR-SSCP)analysis and DNA sequencing of amplified products were performed to screen mutations and mutating patterns of EDA1 gene,responsible for EDA pathogenesis,in a X-linked EDA family of Han people.Results Abnormal single strand bands were found in the amplified fra gments as well of exon 1 of EDA gene in the patients as well as their mothers,the carriers.The DNA sequencing of amplified products revealed a point mutation at nucleotide 404(C→Gtransversion)in the proband compared with that of the normal controls,which resulted in the transversion of histidine with glutamine at codon 54 in the ectodysplasin-A(H54Q).Meanwhile there were heterozyous double peaks of nucleotide Cand Gat the same position in his mother.Conclusion A missense mutation(404C→G)in exon 1 of EDA1gene has been determined in the pedigree with X-linked EDA,which is probably one of the molecular bases of EDA pathogenesis.

Key words: Ectodermal dysplasia, Mutation