Figure 1. .

Map encompassing haplotyped region of 13q11-12, showing locations of GJB2, GJB6, genotyped microsatellite and SNP markers, and breakpoints of del(GJB6-D13S1830) and del(GJB6-D13S1854), all shown approximately to scale. The locations of the variants used for allele-specific expression assays—GJB2 35delG, GJB2 +94, and rs7333214—are also indicated. Boxes indicate exons, and the hatched boxes indicate the coding regions of the two genes. Vertical lines show approximate locations of genotyped microsatellites (in bold) and SNPs. D13S232 is the most proximal microsatellite showing recombination of the novel haplotype in affected individuals. The transcriptional start sites of GJB2 and GJB6 are indicated by right-angled arrows.