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Full-Text Articles in Medicine and Health Sciences
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
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 …
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
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 …