Analysis of COL7A1 Gene Mutation in a Family with Dystrophic Epidermolysis Bul losa Pruriginosa / 中华皮肤科杂志

ABSTRACT

Objective To identify the COL7A1 gene mutation in a family with dy strophic epidermolysis bullosa pruriginosa. Methods PCR and direct DNA sequencin g were employed to determine the mutation sites and mutation types. RT-PCR and cloning sequencing were performed to further identify the pathogeny of this dise ase. Results A splicing mutation was found in 87 exon of COL7A1 gene which resul ted in an in-frame deletion of exon 87. Synthesis of ?1(VII) collagen polypept ides was internally shortened by 23 amino acids. The mutation was not found in n ormal controls. Conclusions The splicing mutation of COL7A1 gene is the underlyi ng cause of and specific rather than common polymorphism for the family with dys trophic epidermolysis bullosa pruriginosa subtype.