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  

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

作　　者：杨勇[1] 李冠群[1] 朱学骏[1] 

机构地区：[1]北京大学第一医院皮肤科,北京100034

出　　处：《中华皮肤科杂志》2001年第1期36-38,共3页Chinese Journal of Dermatology

基　　金：国家自然科学基金资助!( 39600131)

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。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.

关 键 词：单纯性大疱性表皮松解 角蛋白14 基因突变 Dowling-Meara亚型 遗传学 

分 类 号：R758.59[医药卫生—皮肤病学与性病学]