Incidence of erythropoietic protoporphyria and molecular mechanism in population of Slovenia

In the course of the investigation patiens will be detected by clinical records and routine clinical work. The diagnosis will be based on patints' histories, clinical symptoms and a protoporpyrin values in erythrocytes. Pedigrees of the involved families will be prepared. Ten ml of venous blood will be taken after obtaining the informed consent.After extraction of DNA the screening will be preformed as follows: the suspected fragments will be multiplied by PCR using Taq polimerase. The obtined fragments will be analised by the method of estimating conformations of the single stranded DNA and/or with the analysis of heteroduplexes. The final identification will be done by sequencing of the single stranded DNA.