中华皮肤科杂志 ›› 2001, Vol. 30 ›› Issue (1): 36-38.

• 论著 • 上一篇    下一篇

Dowling-Meara亚型单纯型大疱性表皮松解症一家系的基因突变检测

杨勇, 李冠群, 朱学骏   

  1. 北京大学第一医院皮肤科, 北京 100034
  • 收稿日期:2000-03-27 出版日期:2001-02-15 发布日期:2001-02-15
  • 基金资助:
    国家自然科学基金资助(39600131)

Study on the Gene Mutation in a Pedigree with Dowling-Meara Type Epidermolysis Bullosa Simplex by PCR-Heteroduplex Analysis

YANG Yong, LI Guanqun, ZHU Xuejun   

  1. Department of Dermatology, First Hospital, Peking University, Beijing 100034
  • Received:2000-03-27 Online:2001-02-15 Published:2001-02-15

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摘要： 目的 研究Dowling-Meara亚型单纯型大疱性表皮松解症(DM-EBS)一家系的基因突变.方法 采用了免疫组化、电镜、聚合酶链反应－异源双链分析和DNA测序方法.结果 免疫组化显示裂隙发生于致密层以上;电镜显示本病的基底细胞下部出现裂隙,张力微丝减少;通过聚合酶链反应－异源双链分析检测到K14的基因突变,进而应用直接测序法确定了突变位点:K14的1A区N123R.结论 本DM-EBS家系存在K14的基因突变.

关键词: 表皮松解,大疱性,单纯性, 角蛋白14, 基因, 突变

Abstract: Objective To study the gene mutation in a pedigree with Dowling-Meara type epidermolysis bullosa simplex (DM-EBS). Methods Using the immuno-histochemistory,electron microscopy,PCR-HA and DNA sequencing. Results The cytolysis was observed throughout the lower basal layer,tonofilaments were decreased; using PCR-HA,the K14 gene mutation was detected. By DNA sequencing,we found gene mutation in this pedigree: K14 1A domain: N123R. Conclusion There is K14 1A domain gene mutation in this DM-EBS pedigree.

Key words: Epidermolysis bullosa simplex, Keratin14, Gene, Mutation