A, Three sequence traces from the intron-exon 14 boundary of the AAAS gene. The upper trace shows the mutant sequence (IVS14+1G→A), the most common alteration of the AAAS gene described to date. The trace in the middle shows the normal sequence, and that in the bottom is from patient 8 (Table 1, kindred AL05), who was a heterozygote for that mutation. B, Long-range PCR of the AAAS gene in that individual failed to show any gross alterations of the AAAS gene, as demonstrated by the panel on the left. Three overlapping segments of the AAAS gene have the expected sizes (for the amplicons 1F and 7R, 1F and 16R, and 9F and 16R, they are 7,368, 14,210, and 2,006 bp, respectively).