Figure 4.
Spliced products after transfection of COS-7 cells with constructs that contain the normal and mutant sequences. Transfection with a construct containing wild-type normal (N) sequences produces a single band that corresponds to correctly spliced mRNA containing exons 5–7, whereas transfection with a construct containing the patient’s mutation (P) produces a single major band that corresponds to mRNA resulting from use of a cryptic splice site constituted by an AG dinucleotide pair 11 and 12 nt from the normal intron 4/exon 5 junction. M = size markers.