Identification of the mutation in the IRE of the L ferritin gene. (A) Schematic representation of the functional L ferritin gene on chromosome 19q13.3-q13.4 and position of the primers used for the PCR amplification. (B) Sequence analysis of genomic DNA from a normal individual (left) and from patient III₁ in Family 2 (right). Comparison of the sequence of the reverse strand reveals a C to A mutation at the heterozygous state in the patient DNA. (C) Predicted secondary structure of the IRE in the L ferritin mRNA and position of the mutation in the 5′ UGC bulge. Numbering is from the first nucleotide in exon 1.