Selective Absence Of Cone Outer Segment Β3-Transducin Immunoreactivity In Hereditary Cone Degeneration (Cd), Kathryn Gropp, A. Széll, Jun Huang, Gregory Acland, Debora Farber, Gustavo Aguirre
Aug 1996
Selective Absence Of Cone Outer Segment Β3-Transducin Immunoreactivity In Hereditary Cone Degeneration (Cd), Kathryn Gropp, A. Széll, Jun Huang, Gregory Acland, Debora Farber, Gustavo Aguirre
Gustavo D. Aguirre, VMD, PhD
We have used immunocytochemistry and in situ hybridization to examine the expression of photoreceptor specific genes in retinas of normal dogs and those affected with hereditary cone degeneration (cd), a rare autosomal recessive disorder that selectively affects cones. In thecdretina, cone disease begins early in life; cones are lost by extrusion of the nucleus into the inner segment, and later, by displacement of the nucleus, surrounded by a thin rim of cytoplasm, into the interphotoreceptor space. Two micrometer sections from the superior and inferior retinal meridians, extending from the optic disk to the ora serrata, were used for in situ …
Nonallelism Of Erd And Prcd And Exclusion Of The Canine Rds/Peripherin Gene As A Candidate For Both Retinal Degeneration Loci., K Ray, Gregory M. Acland, Gustavo D. Aguirre
Mar 1996
Nonallelism Of Erd And Prcd And Exclusion Of The Canine Rds/Peripherin Gene As A Candidate For Both Retinal Degeneration Loci., K Ray, Gregory M. Acland, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
Purpose: To determine whether early retinal degeneration (erd) and progressive rod cone degeneration (prcd), two canine hereditary retinal degenerations, are caused by allelic mutations; to determine the cDNA sequence of the canine RDS/peripherin homolog (CFRDSP); and to test whether mutations(s) in CFRDSP cause(s) either erd or prcd.
Methods: Three erd-affected dogs were crossbred to three prcd-affected dogs, and their progeny were tested by electroretinography and retinal morphology for evidence of retinal degeneration. Canine RDS/peripherin cDNA was cloned and sequenced after reverse-transcription-polymerase chain reaction (RT-PCR) of total retinal RNA. A set of overlapping fragments of CFRDSP cDNA amplified from normal and …
An Improved Diagnostic Test For Rod Cone Dysplasia 1 (Rcdl) Using Allele-Specific Polymerase Chain Reaction, Kunal Ray, Maria Lara Tejero, Victoria Baldwin, Gustavo Aguirre
Dec 1995
An Improved Diagnostic Test For Rod Cone Dysplasia 1 (Rcdl) Using Allele-Specific Polymerase Chain Reaction, Kunal Ray, Maria Lara Tejero, Victoria Baldwin, Gustavo Aguirre
Gustavo D. Aguirre, VMD, PhD
Purpose. To develop an improved diagnostic test for rod-cone dysplasia type 1 (rcdl). The rcdl phenotype is an early onset, autosomal recessive disease caused by a mutation in the canine rod cyclic GMP phosphodiesterase (β-subunit (PDE6B) gene. A G to A transition in codon 807 at nucleotide position 2420 results in a stop codon. This is the only disease causing mutation detected so far in the canine PDE6B gene.
Methods. Allele specific primers were designed in which the 3' end had the nucleotide corresponding to either the wild type or the mutant rcdl allele. PCR was …