An improved diagnostic test for rod cone dysplasia 1 (rcdl) using allele-specific polymerase chain reaction

References

• Aguirre G., Farber D., Lolley R., O'Brien P., Alligood J., Fletcher R. T., Chader G. Retinal degeneration in the dog. III. Abnormal cyclic nucleotide metabolism in rod-cone dysplasia. Exp. Eye Res. 1982; 35: 625–642
   PubMed Web of Science ®Google Scholar
• Aguirre G., Farber D., Lolley R., Fletcher R., Chader G. J. Rod-cone dysplasia in Irish setters: a defect in cyclic GMP in visual cells. Science 1978; 201: 1133–1134
   PubMed Web of Science ®Google Scholar
• Schmidt S. Y., Aguirre G. D. Reductions in taurine secondary to photoreceptor loss in Irish setters with rod-cone dysplasia. Invest. Ophthalmol. Vis. Sci. 1985; 26: 679–683
   PubMedGoogle Scholar
• Suber M. L., Pittler S. J., Qin N., Wright G. C., Holcombe V., Lee R. H., Craft C. M., Lolley R. N., Baehr W., Hurwitz R. L. Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase β-subunit gene. Proc. Natl. Acad. Sci. USA 1993; 90: 3968–3972
   PubMed Web of Science ®Google Scholar
• Clements P. J. M., Gregory C. Y., Peterson-Jones S. M., Sargan D. R., Bhattacharya S. S. Confirmation of the rod cGMP phosphodiesterase β subunit (PDEB) nonsense mutation in affected rcd-1 Irish setters in the UK and development of a diagnostic test. Curr. Eye Res. 1993; 12: 861–866
   PubMed Web of Science ®Google Scholar
• Ray K., Baldwin V. J., Acland G. M., Blanton S. H., Aguirre G. D. Co-segregation of codon 807 mutation of the canine rod cGMP phosphodiesterase β gene and rcdl. Invest. Ophthalmol. Vis. Sci. 1994; 35: 4291–4299
   PubMed Web of Science ®Google Scholar
• Ray K., Baldwin V. J., Acland G. M., Aguirre G. D. Molecular diagnostic tests for ascertainment of genotype at the rod cone dysplasia 1 (rcdl) locus in Irish setters. Curr. Eye Res. 1995; 14: 243–247
   PubMed Web of Science ®Google Scholar
• Ganguly A., Rock M. J., Prockop D. J. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc. Natl. Acad. Sci. USA 1993; 90: 10325–10329
   PubMed Web of Science ®Google Scholar
• Kawasaki E. S. Sample preparation from blood, cells and other fluids. PCR Protocols: A Guide to Methods and Applications, M. A. Innis, D. H. Gelfand, J. J. Sninsky, T. J. White. Academic Press, San DiegoUSA 1990; 146–152
   Google Scholar
• Wu D. Y., Ugozzoli L., Pal B. K., Wallace B. Allele-specific enzymatic amplification of β-globin genomic DNA for diagnosis of sickle cell anemia. Proc. Natl. Acad. Sci. USA 1989; 86: 2757–2760
   PubMed Web of Science ®Google Scholar
• Sommer S. S., Groszbach A. R., Bottema C. D. K. PCR amplification of specific alleles (RASA) is a general method for rapidly detecting known single-base changes. BioTechnique 1992; 12: 82–87
   PubMed Web of Science ®Google Scholar
• Xu L., Hall B. G. SASA: A simplified method for allele-specific amplification of polymorphic sites. BioTechnique 1994; 16: 44–45
   PubMedGoogle Scholar
• Aguirre G., Farber D., Lolley R., O'Brien P., Alligood J., Fletcher R. T., Chader G. Retinal degeneration in the dog. III. Abnormal cyclic nucleotide metabolism in rod-cone dysplasia. Exp. Eye Res. 1982; 35: 625–642
   PubMed Web of Science ®Google Scholar
• Aguirre G., Farber D., Lolley R., Fletcher R., Chader G. J. Rod-cone dysplasia in Irish setters: a defect in cyclic GMP in visual cells. Science 1978; 201: 1133–1134
   PubMed Web of Science ®Google Scholar
• Schmidt S. Y., Aguirre G. D. Reductions in taurine secondary to photoreceptor loss in Irish setters with rod-cone dysplasia. Invest. Ophthalmol. Vis. Sci. 1985; 26: 679–683
   PubMedGoogle Scholar
• Suber M. L., Pittler S. J., Qin N., Wright G. C., Holcombe V., Lee R. H., Craft C. M., Lolley R. N., Baehr W., Hurwitz R. L. Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase β-subunit gene. Proc. Natl. Acad. Sci. USA 1993; 90: 3968–3972
   PubMed Web of Science ®Google Scholar
• Clements P. J. M., Gregory C. Y., Peterson-Jones S. M., Sargan D. R., Bhattacharya S. S. Confirmation of the rod cGMP phosphodiesterase β subunit (PDEB) nonsense mutation in affected rcd-1 Irish setters in the UK and development of a diagnostic test. Curr. Eye Res. 1993; 12: 861–866
   PubMed Web of Science ®Google Scholar
• Ray K., Baldwin V. J., Acland G. M., Blanton S. H., Aguirre G. D. Co-segregation of codon 807 mutation of the canine rod cGMP phosphodiesterase β gene and rcdl. Invest. Ophthalmol. Vis. Sci. 1994; 35: 4291–4299
   PubMed Web of Science ®Google Scholar
• Ray K., Baldwin V. J., Acland G. M., Aguirre G. D. Molecular diagnostic tests for ascertainment of genotype at the rod cone dysplasia 1 (rcdl) locus in Irish setters. Curr. Eye Res. 1995; 14: 243–247
   PubMed Web of Science ®Google Scholar
• Ganguly A., Rock M. J., Prockop D. J. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc. Natl. Acad. Sci. USA 1993; 90: 10325–10329
   PubMed Web of Science ®Google Scholar
• Kawasaki E. S. Sample preparation from blood, cells and other fluids. PCR Protocols: A Guide to Methods and Applications, M. A. Innis, D. H. Gelfand, J. J. Sninsky, T. J. White. Academic Press, San DiegoUSA 1990; 146–152
   Google Scholar
• Wu D. Y., Ugozzoli L., Pal B. K., Wallace B. Allele-specific enzymatic amplification of β-globin genomic DNA for diagnosis of sickle cell anemia. Proc. Natl. Acad. Sci. USA 1989; 86: 2757–2760
   PubMed Web of Science ®Google Scholar
• Sommer S. S., Groszbach A. R., Bottema C. D. K. PCR amplification of specific alleles (RASA) is a general method for rapidly detecting known single-base changes. BioTechnique 1992; 12: 82–87
   PubMed Web of Science ®Google Scholar
• Xu L., Hall B. G. SASA: A simplified method for allele-specific amplification of polymorphic sites. BioTechnique 1994; 16: 44–45
   PubMedGoogle Scholar