Abstract
Purpose: :
To test whether CMC cosegregates with the choroideremia locus.
Methods: :
Informative Single Nucleotide Polymorphisms (SNPs) located in and around the canine CHM ortholog were identified. SNPs were genotyped in a population of normal and affected Borzoi dogs. Haplotype analysis and Fisher’s exact test were applied to test for association between CMC and the choroideremia locus.
Results: :
SNP genotypes were obtained for 34 Borzoi dogs, including 19 affected males, 4 affected females, 7 normal males, and 4 normal females. All genotyped dogs were at least 7 years old. Three different haplotypes among 23 affected dogs were identified for the choroideremia locus. The same haplotypes were observed in normal males and normal homozygous females. None of the SNP alleles, or haplotypes were found to be associated with the affected phenotype in the Borzoi (Fisher exact test; P > 0.65).
Keywords: retinal degenerations: hereditary • choroid • gene screening