Figure 2. Analysis of human PAX9 gene. (A) Schematic of human PAX9 gene with boxes representing exons (1-4) as numbered. Boxes with hatched lines indicate 5' and 3' UTR regions, respectively, and solid lines represent introns. The region that encodes for the paired domain (PD) is shown in exon 2. Solid gray boxes represent the regions sequenced in this study. Arrow indicates location of mutation. (B) Representative chromatogram of normal family member showing absence of insertion mutation. (C) Representative chromatogram of affected family member showing an insertion mutation.
