Identification of 3 new ferroportin mutations. For each mutation, a sequence chromatogram of the region of interest is shown for a healthy individual and for the patient, with the healthy and the mutated amino acid. Identification of the patient, the exon containing the mutation, and the mutated nucleotide is given above the panels. Nucleotide numbers are according to the human ferroportin cDNA sequence (GenBank accession no. AF226614). Presence of the mutation was confirmed by restriction site analysis of PCR fragment of the corresponding exon in 2 cases. The 554-bp PCR fragment of exon 6 is cleaved by HincII in normal DNA (lane 1, left gel), whereas the mutation present at the heterozygous state destroys the cleavage site in the DNA of patient 38 (lane 2) and of his daughter (lane 3). The 519 PCR fragment of exon 7 is cleaved by MwoI in control DNA (lanes 1-2, right gel) but not in the mutated DNA (lane 3).