Strategies for identification of mutations causing hereditary retinal diseases in dogs: evaluation of opsin as a candidate gene

Article Abstract:

A study was conducted to analyze the gene defect causing various forms of progressive retinal atrophy in dogs. Opsin was evaluated as a candidate gene for the coding of photoreceptor-specific structural proteins and enzymes of the phototransduction pathway. The association of the mutations of the gene with congenital stationary night blindness was also examined. Results indicated that mutations in the rod opsin gene does not correlate with progressive retinal atrophy or congenital stationary night blindness.

Atrophy

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Frequency of the codon 807 mutation in the cGMP phosphodiesterase beta-subunit gene in Irish setters and other dog breeds with hereditary retinal degeneration

Article Abstract:

A study was conducted to analyze the frequency of the codon 807 mutation in the cGMP phosphodiesterase beta-subunit gene in Irish setters and other dog breeds with hereditary retinal degeneration. Blood samples were obtained in anticoagulant tubes or retrieved from the archival tissue samples. A mismatch primer was then utilized to amplify partial canine exon. Results indicated the importance of molecular diagnostic test to identify Irish setter dogs at risk to be carriers for rod-cone dysplasia 1.

Diseases, Retinal diseases, Dog breeds, Dog diseases

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Photoreceptor dysplasia (pd) in miniature Schnauzer dogs: evaluation of candidate genes by molecular genetic analysis

Article Abstract:

A study was conducted to analyze the association of Schnauzer dog genes with the photoreceptor dysplasia locus by examining the segregation of intragenic markers with the disease locus or sequencing the coding regions of the genes. Total RNA was determined from predegenerate retinal samples while genomic DNA was isolated using conventional methods. Two overlapping clones were then utilized for sequencing using vector-specific primers and gene-specific primers.

Molecular genetics

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