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. 1995 Oct;57(4):962–964.

Fine localization of the locus for autosomal dominant retinitis pigmentosa on chromosome 17p.

R Goliath, Y Shugart, P Janssens, J Weissenbach, P Beighton, R Ramasar, J Greenberg
PMCID: PMC1801525  PMID: 7573060

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Blanton S. H., Heckenlively J. R., Cottingham A. W., Friedman J., Sadler L. A., Wagner M., Friedman L. H., Daiger S. P. Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. Genomics. 1991 Dec;11(4):857–869. doi: 10.1016/0888-7543(91)90008-3. [DOI] [PubMed] [Google Scholar]
  2. Dryja T. P., Hahn L. B., Cowley G. S., McGee T. L., Berson E. L. Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A. 1991 Oct 15;88(20):9370–9374. doi: 10.1073/pnas.88.20.9370. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Dryja T. P., McGee T. L., Reichel E., Hahn L. B., Cowley G. S., Yandell D. W., Sandberg M. A., Berson E. L. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature. 1990 Jan 25;343(6256):364–366. doi: 10.1038/343364a0. [DOI] [PubMed] [Google Scholar]
  4. Farrar G. J., Kenna P., Jordan S. A., Kumar-Singh R., Humphries M. M., Sharp E. M., Sheils D. M., Humphries P. A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. Nature. 1991 Dec 12;354(6353):478–480. doi: 10.1038/354478a0. [DOI] [PubMed] [Google Scholar]
  5. Greenberg J., Babaya M., Ramesar R., Beighton P. Retinitis pigmentosa, AD type I: exclusion of linkage to D3S47 (C17) in a large South African family of British origin. Clin Genet. 1992 Jun;41(6):322–325. doi: 10.1111/j.1399-0004.1992.tb03406.x. [DOI] [PubMed] [Google Scholar]
  6. Greenberg J., Goliath R., Beighton P., Ramesar R. A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17. Hum Mol Genet. 1994 Jun;3(6):915–918. doi: 10.1093/hmg/3.6.915. [DOI] [PubMed] [Google Scholar]
  7. Inglehearn C. F., Carter S. A., Keen T. J., Lindsey J., Stephenson A. M., Bashir R., al-Maghtheh M., Moore A. T., Jay M., Bird A. C. A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p. Nat Genet. 1993 May;4(1):51–53. doi: 10.1038/ng0593-51. [DOI] [PubMed] [Google Scholar]
  8. Inglehearn C. F., Keen T. J., Bashir R., Jay M., Fitzke F., Bird A. C., Crombie A., Bhattacharya S. A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa. Hum Mol Genet. 1992 Apr;1(1):41–45. doi: 10.1093/hmg/1.1.41. [DOI] [PubMed] [Google Scholar]
  9. Jordan S. A., Farrar G. J., Kenna P., Humphries M. M., Sheils D. M., Kumar-Singh R., Sharp E. M., Soriano N., Ayuso C., Benitez J. Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q. Nat Genet. 1993 May;4(1):54–58. doi: 10.1038/ng0593-54. [DOI] [PubMed] [Google Scholar]
  10. Kajiwara K., Hahn L. B., Mukai S., Travis G. H., Berson E. L., Dryja T. P. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature. 1991 Dec 12;354(6353):480–483. doi: 10.1038/354480a0. [DOI] [PubMed] [Google Scholar]
  11. Lathrop G. M., Lalouel J. M. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet. 1984 Mar;36(2):460–465. [PMC free article] [PubMed] [Google Scholar]
  12. Murakami A., Yajima T., Inana G. Isolation of human retinal genes: recoverin cDNA and gene. Biochem Biophys Res Commun. 1992 Aug 31;187(1):234–244. doi: 10.1016/s0006-291x(05)81483-4. [DOI] [PubMed] [Google Scholar]
  13. Sung C. H., Schneider B. G., Agarwal N., Papermaster D. S., Nathans J. Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A. 1991 Oct 1;88(19):8840–8844. doi: 10.1073/pnas.88.19.8840. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Wells J., Wroblewski J., Keen J., Inglehearn C., Jubb C., Eckstein A., Jay M., Arden G., Bhattacharya S., Fitzke F. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet. 1993 Mar;3(3):213–218. doi: 10.1038/ng0393-213. [DOI] [PubMed] [Google Scholar]
  15. Wiechmann A. F., Haro K. C., Bowden D. W. Three microsatellite polymorphisms at the recoverin locus on chromosome 17. Hum Mol Genet. 1994 Jun;3(6):1028–1028. doi: 10.1093/hmg/3.6.1028. [DOI] [PubMed] [Google Scholar]
  16. al-Maghtheh M., Inglehearn C. F., Keen T. J., Evans K., Moore A. T., Jay M., Bird A. C., Bhattacharya S. S. Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19. Hum Mol Genet. 1994 Feb;3(2):351–354. doi: 10.1093/hmg/3.2.351. [DOI] [PubMed] [Google Scholar]

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