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A Novel Mutation in Human PAX9 Causes Molar Oligodontia

S.A. Frazier-Bowers1, D.C. Guo2, A. Cavender1, L. Xue2, B. Evans3, T. King2, D. Milewicz2, and R.N. D'Souza1,*

1 Department of Orthodontics, Dental Branch, Suite 371, and
2 Department of Internal Medicine, Medical School, University of Texas Health Science Center, 6516 M.D. Anderson Blvd., Houston, Texas 77030;
3 Specialists in Orthodontics, 817 9th Street, Rapid City, SD 57701;




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  		Figure 1. Characterization of molar oligodontia. (A) Pedigree analysis by inspection reveals an autosomal-dominant form of molar oligodontia. Darkened symbols represent affected, clear symbols indicate normal unaffected, squares indicate male, circles indicate females, and (/) indicates deceased. (B) Panoramic radiograph of individual IV-5 depicts typical pattern of congenitally missing teeth in this family.

 




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  		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.

 


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  		Figure 3. Restriction-enzyme analysis of PCR-amplified DNA fragment of exon 4 of PAX9. The PCR fragments 450 bp long were digested with PvuII. The mutant allele was not cleaved at this site, while the wild type was cleaved normally.

 




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