Figure 3. Mutation analysis was performed on the ferritin light chain – iron response element sequence. A: Sequence trace of the wild-type allele shows G at nucleotide 168 upstream from the ATG (c.-168G). B: Sequence trace of the mutant allele shows the heterozygous c.-168G>T transversion (denoted K by the International Union of Pure and Applied Chemistry code). C: Allele-specific PCR analysis using the three primers (Table 1) indicated by arrows in the schematic diagram, reveals that the mutant T-allele (277 bp) co-segregates with affected but not unaffected family members.