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.
出处
《中华皮肤科杂志》
CAS
CSCD
北大核心
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)
