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Full-Text Articles in Translational Medical Research
Frequency Of The Codon 807 Mutation In The Cgmp Phosphodiesterase Β-Subunit Gene In Irish Setters And Other Dog Breeds With Hereditary Retinal Degeneration, Gustavo D. Aguirre, V Baldwin, K M. Weeks, Gregory M. Acland, Kunal Ray
Frequency Of The Codon 807 Mutation In The Cgmp Phosphodiesterase Β-Subunit Gene In Irish Setters And Other Dog Breeds With Hereditary Retinal Degeneration, Gustavo D. Aguirre, V Baldwin, K M. Weeks, Gregory M. Acland, Kunal Ray
Gustavo D. Aguirre, VMD, PhD
Rod-cone dysplasia 1 (rcd1) in Irish setters is caused by a nonsense mutation in the cGMP phosphodiesterase β-subunit gene (PDE6B). We examined the frequency of the mutant allele in the Irish setter population and determined if the defect is present in dogs of other breeds which are affected with other inherited photoreceptor diseases. Between 1994 and 1997, samples were obtained from 436 clinically normal Irish setters, a red wolf, and dogs from 23 different breeds. The mutation in codon 807 of PDE6B was detected in genomic DNA by heteroduplex analysis, allele-specific PCR, or restriction enzyme digestion. …