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. Author manuscript; available in PMC: 2018 Sep 26.
Published in final edited form as: Am J Med Genet A. 2003 Apr 1;118A(1):35–42. doi: 10.1002/ajmg.a.10011

Fig. 3.

Fig. 3.

DNA sequence chromatograms from a control (a) and an affected individual (b) from pedigree DEN3 showing the point mutation in exon 2 of the PAX9 gene on the non-coding strand. c: Segregation of the mutation in family DEN3. An allele-specific PCR test was developed by substituting a C for a T 4-bp upstream from the mutation in the forward primer, hPAX9K91EF. This mutation in combination with the mutation in DEN3 created a cleavage site for BsrBI. The primers hPAX9K91EF and hPAX9K91ER were used to amplify a 179-bp product containing the mutation. Digestion with BsrBI resulted in a 149-bp fragment and a 30-bp fragment (not visible) in addition to a 179-bp fragment representing the wild-type allele in affected individuals.