Figure 5. Southern blotting and direct sequencing results of the macrodeletion

A: Southern blotting of patient IV-14 DNA compared with normal control confirmed the absence of exon 8. PCR product corresponding to the exon 8 and its intron boundaries were used as a probe (352 bp). B: The novel deletion identified in the RPGR spans about 30 kb, removing exon 1 through 11. An insertion of one nucleotide was found in the flanking sequence. The start point was located 80 bp upstream of exon 1 and the end point was 42 bp downstream of exon 11. The mutant allele sequence is shown at the bottom, the arrowhead indicates the deletion point, and the emphasized cytosine indicates the 1 bp insertion.