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. Author manuscript; available in PMC: 2014 Aug 1.
Published in final edited form as: Mol Genet Metab. 2013 May 22;109(4):390–396. doi: 10.1016/j.ymgme.2013.05.006

Figure 5. CUBN exon 53 cytosine deletion genotyping in BC.

Figure 5

Shown are results of an allele-specific, HpyCH4III restriction digest of 212 bp PCR products amplified from genomic DNA. The cytosine deletion mutation abrogates a cut site, creating a 141 bp fragment upon digestion of the initial PCR amplicon. The wildtype sequence is cut to create a 111 bp fragment. The amplicon has a second HpyCH4III recognition site distant from the mutation site that creates a 71 bp fragment regardless of genotype. The symbols (see Fig 1 legend) above indicate the disease phenotype of several dogs of the UK1 kindred, D and T of the CA kindred and one sporadic case (S) of an I-GS BC from Michigan.