Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28 (original) (raw)
- Letter
- Published: 17 May 1984
- A. F. Wright1,
- J. F. Clayton1,
- W. H. Price1,2,
- C. I. Phillips3,
- C. M. E. McKeown4,
- M. Jay5,
- A. C. Bird5,
- P. L. Pearson6,
- E. M. Southern1,7 &
- …
- H. J. Evans1
Nature volume 309, pages 253–255 (1984)Cite this article
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Abstract
Retinitis pigmentosa (RP) is a group of retinal degenerations characterized by progressive visual field loss, night blindness and pigmentary retinopathy1. Its prevalence is in the region of 1–2 in 5,000 of the general population, making it one of the commoner causes of blindness in early and middle life2,3. Although 36–48% of RP patients are isolated cases, the remainder show autosomal dominant, autosomal recessive or X-linked modes of inheritance4,5. The X-linked variety (XLRP) is found in 14–22% of RP families in the UK2,5. In the present study, X chromosome-specific recombinant DNA probes which can detect restriction fragment length polymorphisms have been used to localize the XLRP gene(s) to a subregion of the X chromosome using linkage analysis. One of the probes, L1.28, has been shown to be closely linked to XLRP in five kindreds,, with 95% confidence limits of 0–15 centimorgans (maximum LOD score of 7.89 at a distance of 3 centimorgans). This suggests that the XLRP locus lies on the proximal part of the short arm of the X chromosome. This probe is potentially useful for carrier detection and early diagnosis in about 40% of cases, provided that genetic heterogeneity can be excluded by analysis of further families.
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References
- Heckenlively, J. in Principles and Practice of Medical Genetics Vol. 1 (eds Emergy, A. E. H. & Rimoin, D. L.) 522–538 (Churchill Livingstone, Edinburgh, 1983).
Google Scholar - Jay, B. Trans. ophthal. Soc. U.K. 98, 309–311 (1978).
CAS Google Scholar - Boughman, J. A., Conneally, P. M. & Nance, W. E. Am. J. hum. Genet. 32, 223–235 (1980).
CAS PubMed PubMed Central Google Scholar - Hu, D.-N. Am. J. med. Genet 12, 51–56 (1982).
Article CAS Google Scholar - Jay, M. Br. J. Ophthal. 66, 405–416 (1982).
Article CAS Google Scholar - Berson, E. L., Rosner, B. & Simonoff, E. Am. J. Ophthal. 89, 763–775 (1980).
Article CAS Google Scholar - Bird, A. C. Br. J. Ophthal. 59, 177–199 (1975).
Article CAS Google Scholar - Berson, E. L., Rosen, J. B. & Simonoff, E.A. Am. J. Ophthal 87, 460–468 (1979).
Article CAS Google Scholar - Arden, G. B. et al. Br. J. Ophthal. 67, 419–430 (1983).
Article CAS Google Scholar - Hussels-Maumenee, I., Pierce, E. R., Bias, W. B. & Schleutermann, D. A. Am. J. hum. Genet. 27, 505–508 (1975).
CAS PubMed PubMed Central Google Scholar - Grutzner, P., Sanger, R. & Spivey, B. E. Humangenetik 14, 155–158 (1972).
Article CAS Google Scholar - Murray, J. M. et al. Nature 300, 69–71 (1982).
Article ADS CAS Google Scholar - Gusella, J. F. et al. Nature 306, 234–238 (1983).
Article ADS CAS Google Scholar - Wright, A. F. et al. Trans. ophthal. Soc. U.K. (in the press).
- Ropers, H.-H., Wieacker, P., Wienker, T. F., Davies, K. & Williamson, R. Hum. Genet. 65, 53–55 (1983).
Article CAS Google Scholar - Pearson, P. L., Wieacker, P., Backer, B. & Prins, H. A. Clin. Genet. (in the press).
- Ott, J. Am. J. hum. Genet. 26, 588–597 (1974).
CAS PubMed PubMed Central Google Scholar - Hoare, G. W. Br. J. Ophthal 49, 449–457 (1965).
Article CAS Google Scholar - Miller, O. J. & Siniscalco, M. Cytogenet. Cell Genet. 32, 179–190 (1982).
Article CAS Google Scholar - Clayton, J. F., Bhattacharya, S. S., Wright, A. F. & Price, W. H. J. med. Genet. 21, 141 (1984).
Article Google Scholar - Renwick, J. H. Br. med. Bull. 25, 65–73 (1969).
Article CAS Google Scholar - Kunkel, L. M., Tantravahi, U., Eisenhard, M. & Latt, S. A. Nucleic Acids Res. 10, 1557–1578 (1982).
Article CAS Google Scholar - Southern, E. M. J. molec. Biol. 98, 503–517 (1975).
Article CAS Google Scholar
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Authors and Affiliations
- MRC Clinical and Population Cytogenetics Unit, Western General Hospital, Edinburgh, EH4 2XU, UK
S. S. Bhattacharya, A. F. Wright, J. F. Clayton, W. H. Price, E. M. Southern & H. J. Evans - University Department of Medicine, Western General Hospital, Edinburgh, EH4 2XU, UK
S. S. Bhattacharya & W. H. Price - Department of Ophthalmology, University of Edinburgh, Eye Pavilion, Edinburgh, EH3 9HA, UK
C. I. Phillips - Department of Clinical Genetics, Birmingham Maternity Hospital, Birmingham, B15 2TG, UK
C. M. E. McKeown - Department of Clinical Ophthalmology, University of London, Institute of Ophthalmology, London, WC1H 9QS, UK
M. Jay & A. C. Bird - Department of Human Genetics, University of Leiden, The Netherlands
P. L. Pearson - MRC Mammalian Genome Unit, Department of Zoology, Edinburgh, EH9 3JT, UK
E. M. Southern
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Bhattacharya, S., Wright, A., Clayton, J. et al. Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28.Nature 309, 253–255 (1984). https://doi.org/10.1038/309253a0
- Received: 23 January 1984
- Accepted: 09 April 1984
- Issue Date: 17 May 1984
- DOI: https://doi.org/10.1038/309253a0