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