Figure 1. The ADRP2 pedigree with a deletion in PRPF31

Subjects were genotyped for 15 markers within and surrounding the PRPF31 gene and haplotypes assembled. A: Filled symbols denote affecteds, open symbols unaffecteds and grey symbols asymptomatic disease haplotype carriers. The extent of the deletion is indicated as a solid bar within the boxed affected haplotype. N denotes untyped markers or where markers failed to amplify. B: The schematic diagram showing the location of markers and the genes involved in the deletion. Distances between markers are not drawn to scale. For clarity genomic organization of only PRPF31 is shown to indicate positions of single nucleotide polymorphysms. The transcriptional direction for each gene is shown by a horizontal arrow.