Figure 1. Pedigrees at the USH1F locus

A: Genomic organization of the PCDH15 isoform A with numbering of the exons as described by Ahmed et al. [10] NM_033056. The noncoding exon 1 is represented in grey. Positions of the BAC clones and the microsatellite markers are indicated. B: Representation of the three pedigrees with haplotypes. (-) represents lack of amplification; N represents normal. In the first pedigree "Ins" stands for the c.423_430dup mutation (insertion of 7 bp). The different haplotypes are indicated by rectangles with various fillings.