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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 …