Col7a1 Gene Mutation Analysis In A Family With Pasini Epidermolysis Bullosa

Objective To identify the COL7A1 gene mutation in a Chinese family with Pasini Epidermolysis Bullosa (Pasini EB).Methods The DNA of COL7A1was extracted from human peripheral blood, and COL7A1 gene was analyzed by the means of Polymerase Chain Reaction,DNA sequencing in a family with Pasini EB. We use the BLAST procedures to identify possible sites of mutation.Results We found an mutation of G1994E,2001△E in exon 73 of type VII collagen was existed only in patients, was not found in family health and 50 unrelated controls.Conclusion The mutation,G1994E,2001△E,is the underlying cause of Pasini EB in this family,not common polymorphism.