Genotypic analysis of family III.

In the pedigree of family III, the proband is indicated by an arrow. Symptomatic patients and asymptomatic carriers are represented by solid and in half-filled symbols, respectively. The results of genotypic analysis of −251A/G in the promoter region and IVS1-23C/T of theFECH gene are shown below the symbols of each individual. The mutated FECH allele featuring the haplotype −251A, IVS-23C is indicated by “AC” in a rectangular frame. The allele that is responsible for the clinical manifestation of EPP featuring the haplotype −251G, IVS-23T is indicated by “GT” in bold and italic.