Left: Long PCR analysis of genomic DNA indicates about 5 kb deletions in both patients PI and P2. Lane 1 (Std) is a 1 kb ladder. Arrows point to the abnormal fragments generated by the genomic deletions. Sample N is amplified from a normal control. Right: Schematic representation of the deletion regions of the genomic DNA (shaded). Bottom: Sequence analysis of junction fragments amplified by PCR reveal identical pentamers (bold). In Case 1, the nucleotide (t) at position +325 in intron 41 is joined to the nucleotide (c) in position +314 in intron 43. In Case 2, the breakage and rejoining occurred within the pentamer (atttt) at positions -282 to -278 of intron 43 and positions -325 to -321 of intron 46.