中华皮肤科杂志 ›› 1997, Vol. 30 ›› Issue (4): 221-223.

• 论著 •    下一篇

手足复发型大疱型表皮松解症角蛋白5基因突变位点的检测

吴安, 李冠群, 朱学骏   

  1. 北京医科大学第一医院 100034
  • 收稿日期:1996-06-17 修回日期:1996-10-07 出版日期:1997-08-15 发布日期:1997-08-15
  • 基金资助:
    西安杨森皮肤科学教育和研究基金

The Detection of Keratin 5 Mutation in Patients with Weber-Cockayne Epidermolysis Bullosa Simplex

Wu An, Li Guanqun, Zhu Xuejun   

  1. Department of Dermatology, The First Teaching Hospital of Beijing Medical University, Beijing 100034
  • Received:1996-06-17 Revised:1996-10-07 Online:1997-08-15 Published:1997-08-15

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摘要： 为了探讨角蛋白基因5和手足复发型大疱型表皮松解症的关系,利用建立在聚合酶链反应基础上的基因突变检测技术、单链构象多肽性和DNA测序方法。对一个手足复发型大疱型表皮松解症的家系进行了角蛋白5基因突变位点检测。结果发现角蛋白5的非螺旋区(即L1-2区)第327个密码子第三个碱基有G→T的替换,导致蛋氨酸变成了异亮氨酸。这一突变引起了角蛋白结构的异常,不能装配形成正常的张力微丝,造成临床上的水疱、大疱和表皮松解。这为遗传性皮肤病的基因及产前诊断建立了一个模式,并为今后的基因治疗提供了理论基础。

关键词: 大疱性表皮松解症, 角蛋白, 突变

Abstract: In order to study the relationship of keratin 5 gene and Weber-Cockayne epidermolysis bullosa simplex (WC-EBS), we use polymerase chain reaction (PCR) amplification combined with single strand conformation polymorphism (SSCP) methods and DNA sequenceing to detect the point mutation of keratin 5 in a family of WC-EBS. The results showed that there is a G→T substitution at the third base pair of codon 327, which caused methionine changed into isoleucine. This abnormality of keratin structure makes the normal assembly of tonofilaments impossible. Furthermore, the above change resulted in blister formation and epidermolysis clinically. This indicates that PCR-SSCP is useful for the gene and prenatal diagnosis of genodermatoses and also provides the basis of theroies for gene therapy.

Key words: Epidermolysis bullosa, Keratin, Mutation