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O. Goldstein, J. Nelson, J. Kijas, D. Sidjanin, G. Acland, G. Aguirre; A Linkage Disequilibrium Map of the Progressive Rod Cone Degeneration Interval . Invest. Ophthalmol. Vis. Sci. 2004;45(13):4756.
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© ARVO (1962-2015); The Authors (2016-present)
Progressive rod cone degeneration (prcd) is an autosomal recessive canine disease which maps to the centromeric end of CFA9, a region homologous to distal HSA17q, suggesting that prcd may be homologous to human RP17. The current zero recombination interval comprises approximately 2.0 Mb and contains approximately 50 candidate genes. Purpose: To shorten the candidate region by linkage disequilibrium (LD) mapping, and therefore reduce the number of candidate genes. Methods: Selected regions from the prcd zero–recombination interval were amplified by PCR from prcd–affected and obligate prcd–heterozygous dogs from multiple breeds, then sequenced and analyzed to identify single nucleotide polymorphisms (SNPs). Results: Determination of the alleles for each SNP in affected dogs identified a fine scale affected haplotype specific for each breed. Alignment of breed–specific affected haplotypes identified a common LD region approximately 150Kb in length containing 5 candidate genes. Conclusions: Because prcd is a late onset, slowly progressive disease affecting multiple breeds of dog, it might represent a single ancient mutation in a common founder. Identification of a reduced LD region with a single fine scale affected haplotype common to all breeds validates this hypothesis, and reduces tenfold the number of candidate genes to be evaluated.
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