Molecular identification of AP3B1 mutation. (A) Genotypes of the marker D5S424 (76.2 Mb) and D5S1501 (78.5 Mb) of the affected homozygous individuals (no. 29 and no. 30) and the heterozygous parents of the affected individuals (nos. 19-22). (B) Genomic Long-Range PCR of the affected individual no. 30 (lane 2) and the homozygous healthy cousin as a control (lane 3). The PCR product of lane 2 displays a length of only approximately 3000 bp (base pair) in contrast to the expected length of 11 018 bp (lane 3), suggesting a genomic deletion of approximately 8000 bp. Lane 1, size marker. (C) Sequence analysis of the Long-Range (LR) PCR product of the affected individual no. 30, revealing a deletion of 8168 bp.