To identify gene mutation of a epidermolysis bullosa pruriginosa family.Polymerase chain reaction (PCR), DNA sequencing, multiplex PCR using allele-specific oligonucleotide primers.A G6100A transition of COL7A1 was found in patients, resulting in G2034R substitution in type VII collagen. The mutation was not found in control normal individuals.The mutation of G2034R is the underlying cause of epidermolysis bullosa pruriginosa in this family, not common polymorphism.