Study on the Gene Mutation in a Pedigree with Dowling-Meara Type Epidermolysis Bullosa Simplex by PCR-Heteroduplex Analysis / 中华皮肤科杂志

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.