Skip to main content
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1994 Apr;54(4):675–680.

Further refinement of the location for autosomal dominant retinitis pigmentosa on chromosome 7p (RP9).

C F Inglehearn 1, T J Keen 1, M al-Maghtheh 1, C Y Gregory 1, M R Jay 1, A T Moore 1, A C Bird 1, S S Bhattacharya 1
PMCID: PMC1918098  PMID: 8128965

Abstract

A form of autosomal dominant retinitis pigmentosa (adRP) mapping to chromosome 7p was recently reported by this laboratory, in a single large family from southeastern England. Further sampling of the family and the use a number of genetic markers from 7p have facilitated the construction of a series of multipoint linkage maps of the region with the most likely disease gene location. From this and haplotype data, the locus can now be placed between the markers D7S484 and D7S526, in an interval estimated to be 1.6-4 cM. Genetic distances between the markers previously reported to be linked to this region and those described in the recent whole-genome poly-CA map were estimated from data in this and other families. These data should assist in the construction of a physical map of the region and will help to identify candidate genes for the 7p adRP locus.

Full text

PDF
675

Selected References

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

  1. Attwood J., Bryant S. A computer program to make linkage analysis with LIPED and LINKAGE easier to perform and less prone to input errors. Ann Hum Genet. 1988 Jul;52(Pt 3):259–259. doi: 10.1111/j.1469-1809.1988.tb01103.x. [DOI] [PubMed] [Google Scholar]
  2. 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]
  3. 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]
  4. 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]
  5. 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]
  6. Hudson T. J., Engelstein M., Lee M. K., Ho E. C., Rubenfield M. J., Adams C. P., Housman D. E., Dracopoli N. C. Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms. Genomics. 1992 Jul;13(3):622–629. doi: 10.1016/0888-7543(92)90133-d. [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. Knowles J. A., Vieland V. J., Gilliam T. C. Perils of gene mapping with microsatellite markers. Am J Hum Genet. 1992 Oct;51(4):905–909. [PMC free article] [PubMed] [Google Scholar]
  12. Lathrop G. M., Lalouel J. M., Julier C., Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443–3446. doi: 10.1073/pnas.81.11.3443. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Moore A. T., Fitzke F., Jay M., Arden G. B., Inglehearn C. F., Keen T. J., Bhattacharya S. S., Bird A. C. Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study. Br J Ophthalmol. 1993 Aug;77(8):473–479. doi: 10.1136/bjo.77.8.473. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Ott J. Strategies for characterizing highly polymorphic markers in human gene mapping. Am J Hum Genet. 1992 Aug;51(2):283–290. [PMC free article] [PubMed] [Google Scholar]
  15. Rysavy F. R., Bishop M. J., Gibbs G. P., Williams G. W. The UK Human Genome Mapping Project online computing service. Comput Appl Biosci. 1992 Apr;8(2):149–154. doi: 10.1093/bioinformatics/8.2.149. [DOI] [PubMed] [Google Scholar]
  16. Sung C. H., Davenport C. M., Hennessey J. C., Maumenee I. H., Jacobson S. G., Heckenlively J. R., Nowakowski R., Fishman G., Gouras P., Nathans J. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A. 1991 Aug 1;88(15):6481–6485. doi: 10.1073/pnas.88.15.6481. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Weber J. L., Kwitek A. E., May P. E. Dinucleotide repeat polymorphisms at the D7S435 and D7S440 loci. Nucleic Acids Res. 1990 Jul 11;18(13):4039–4039. doi: 10.1093/nar/18.13.4039. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Weissenbach J., Gyapay G., Dib C., Vignal A., Morissette J., Millasseau P., Vaysseix G., Lathrop M. A second-generation linkage map of the human genome. Nature. 1992 Oct 29;359(6398):794–801. doi: 10.1038/359794a0. [DOI] [PubMed] [Google Scholar]
  19. 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]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES