Figure 5 of
Aguirre, Mol Vis 4:23, 1998.
Figure 5. Cosegregation of RPE65 gene with csnb in briard dogs
Mendelian inheritance of the RPE65 mutation in a briard pedigree informative for csnb. Affected dogs are represented by black squares (males) and circles (females); obligate heterozygous and clinically non-affected dogs are represented by half filled and open symbols, respectively. The region of RPE65 exon 5 containing the mutation was amplified from genomic DNA of individual dogs, and the PCR products were separated in a 6% non denaturing polyacrylamide gel. Each lane in the illustration shows PCR product obtained from DNA samples of the dog corresponding to the lane. Some of the dogs of the pedigree from which the DNA samples were not available do not correspond to any marked lane of the gel. PCR products from the affected dogs (lanes 2, 6, and 8) contain only the smaller DNA fragment (105 bp) due to the presence of a four nucleotide deletion. Homozygous normal dogs (lanes 4 and 7) contain the normal allele, hence the larger DNA fragment (109 bp). As expected, PCR products from the obligate heterozygotes (lanes 1, 3, and 5) contain both of the DNA fragments, and the heteroduplexes formed between the complementary strands of the two alleles.