Abstract: In order to study the relationship of keratin 5 gene and Weber-Cockayne epidermolysis bullosa simplex (WC-EBS), we use polymerase chain reaction (PCR) amplification combined with single strand conformation polymorphism (SSCP) methods and DNA sequenceing to detect the point mutation of keratin 5 in a family of WC-EBS. The results showed that there is a G→T substitution at the third base pair of codon 327, which caused methionine changed into isoleucine. This abnormality of keratin structure makes the normal assembly of tonofilaments impossible. Furthermore, the above change resulted in blister formation and epidermolysis clinically. This indicates that PCR-SSCP is useful for the gene and prenatal diagnosis of genodermatoses and also provides the basis of theroies for gene therapy.

Key words: Epidermolysis bullosa, Keratin, Mutation