An improved diagnostic test for rod cone dysplasia I (rcd1) using allele-specific polymerase chain reaction

Current Eye Research

Volumn 15, Issue 5, 1996, Pages 583-587

  Ray, Kunal ^a   Lara Tejero, Maria D ^a   Baldwin, Victoria J ^a   Aguirre, Gustavo D ^a  

^a Department of Obstetrics Gynecology   (United States)

Author keywords

Allele specific polymerase chain reaction (PCR); cGMP phosphodiesterase; Dog; Progressive retinal atrophy; Retinal degeneration; Rod cone dysplasia 1

Indexed keywords

CYCLIC GMP PHOSPHODIESTERASE;

ALLELE; ANIMAL TISSUE; ARTICLE; DIAGNOSTIC TEST; DOG; GENE MUTATION; NONHUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA CONE; RETINA MALFORMATION; RETINA ROD; STOP CODON;

3',5'-CYCLIC-GMP PHOSPHODIESTERASE; ALLELES; ANIMALS; BASE SEQUENCE; DNA PRIMERS; DOG DISEASES; DOGS; EVALUATION STUDIES; GENES, RECESSIVE; MUTATION; PHENOTYPE; PHOSPHORIC DIESTER HYDROLASES; POLYMERASE CHAIN REACTION; RETINAL DEGENERATION;

EID: 0029953884     PISSN: 02713683     EISSN: None     Source Type: Journal    
DOI: 10.3109/02713689609000770     Document Type: Article

References (12)

1. Aguirre, G., Farber, D., Lolley, R., O'Brien, R., Alligood, J., Fletcher, R. T. and Chader, G. (1982) Retinal degeneration in the dog. III. Abnormal cyclic nucleotide metabolism in rod-cone dysplasia. Exp. Eye Res. 35, 625-642.
2. Aguirre, G., Farber, D., Lolley, R., Fletcher, R. and Chader, G. J. (1978) Rod-cone dysplasia in Irish setters: a defect in cyclic GMP in visual cells. Science, 201, 1133-1134.
3. Schmidt, S. Y. and Aguirre, G. D. (1985) Reductions in taurine secondary to photoreceptor loss in Irish setters with rod-cone dysplasia. Invest. Ophthalmol. Vis. Sci. 26, 679-683.
4. Suber, M. L., Pittler, S. J., Qin, N., Wright, G. C., Holcombe, V., Lee, R. H., Craft, C. M., Lolley, R. N., Baehr, W. and Hurwitz, R. L. (1993) 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, 90, 3968-3972.
5. Clements, P. J. M., Gregory, C. Y., Peterson-Jones, S. M., Sargan, D. R. and Bhattacharya, S. S. (1993) 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. 12, 861-866.
6. Ray, K., Baldwin, V. J., Acland, G. M., Blanton, S. H. and Aguirre, G. D. (1994) Co-segregation of codon 807 mutation of the canine rod cGMP phosphodiesterase β gene and rcd1. Invest. Ophthalmol. Vis. Sci. 35, 4291-4299.
7. Ray, K., Baldwin, V. J., Acland, G. M. and Aguirre, G. D. (1995) Molecular diagnostic tests for ascertainment of genotype at the rod cone dysplasia 1 (rcd1) locus in Irish setters. Curr. Eye Res. 14, 243-247.
8. Ganguly, A., Rock, M. J. and Prockop, D. J. (1993) Conformation-sensitive gel electrophoresis for rapid detec-tion 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, 90, 10325-10329.
9. Kawasaki, E. S. (1990) Sample preparation from blood, cells and other fluids. In PCR Protocols: A Guide to Methods and Applications (Eds. Innis, M A., Gelfand, D. H., Sninsky, J. J. and White, T. J.). Pp. 146-152. Academic Press, San Diego, USA.
10. Wu, D. Y., Ugozzoli, L., Pal, B. K. and Wallace, B. (1989) Allele-specific enzymatic amplification of β-globin genomic DNA for diagnosis of sickle cell anemia. Proc. Natl. Acad. Sci. USA, 86, 2757-2760.
11. Sommer, S. S., Groszbach, A. R. and Bottema, C. D. K. (1992) PCR amplification of specific alleles (RASA) is a general method for rapidly detecting known single-base changes. BioTechnique, 12, 82-87.
12. Xu, L. and Hall, B. G. (1994) SASA: A simplified method for allele-specific amplification of polymorphic sites. BioTechnique, 16, 44-45.