Novel Mutation of the Initiation Codon of PAX9 Causes Oligodontia
M.L. Klein1,*,
P. Nieminen2,3,
L. Lammi2,3,
E. Niebuhr1,4, and
S. Kreiborg1,5
1 Department of Pediatric Dentistry and Clinical Genetics, School of Dentistry, Faculty of Health Sciences, University of Copenhagen, Nørre Allé 20, DK- 2200 Copenhagen, Denmark;
2 Institute of Dentistry and Institute of Biotechnology, University of Helsinki, Finland;
3 Department of Oral and Maxillofacial Diseases, Helsinki University Central Hospital, Finland;
4 Department of Medical Biochemistry and Genetics, Faculty of Health Sciences, University of Copenhagen, Denmark; and
5 Center for Rare Oral Diseases, Copenhagen University Hospital, Denmark;
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Figure 2. (a) Orthopantomographic radiograph obtained when the proband was 13 years old. (b) Orthopantomographic radiograph of the proband’s father.
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Figure 3. (a) Dye terminator chemistry method. Arrows indicate where translation starts. (b) Autoradiographic detection method. Arrows indicate where translation starts. ‘N’ marks the A G mutation in the initiation codon. (c) Restriction-enzyme analysis of exon 1 of PAX9 in the family. The longer fragment represents the mutated, uncleaved allele, and the shorter fragment the wild-type allele. The numbers indicate: (1) affected grandfather, (2) unaffected mother, (3) H2O, (4) proband, and (5) affected father.
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