Rapid molecular diagnosis of erythropoietic protoporphyria among Swiss patients

Erythropoietic protoporphyria (EPP) is an autosomal dominant inherited diso rder with incomplete penetrance. it is caused by partial deficiency of ferr ochelatase, the last enzyme in the heme biosynthetic pathway. Measurement o f protoporphyrin concentrations in red cells and feces, although sufficient for diagnosis of symptomatic EPP patients, fails to detect asymptomatic ge ne carriers. We have developed a molecular diagnostic procedure for rapid a nd reliable screening of five known mutations in the ferrochelatase gene am ong Swiss EPP patients in a single denaturing gradient gel electrophoresis (DGGE) gel.