Abstract: Objective To identify the COL7A1 gene mutation in a family with dystrophic epidermolysis bullosa pruriginosa. Methods PCR and direct DNA sequencing were employed to determine the mutation sites and mutation types. RT-PCR and cloning sequencing were performed to further identify the pathogeny of this disease. Results A splicing mutation was found in 87 exon of COL7A1 gene which resulted in an inframe deletion of exon 87. Synthesis of α1(VII) collagen polypeptides was internally shortened by 23 amino acids. The mutation was not found in normal controls. Conclusions The splicing mutation of COL7A1 gene is the underlying cause of and specific rather than common polymorphism for the family with dystrophic epidermolysis bullosa pruriginosa subtype.

Key words: Epidermolysis bullosa dystrophica, Mutation