A large Danish pedigree segregating for X-linked retinitis pigmentosa (RPX) (Warburg and Simonsen 1968) was restudied for linkage analysis. Using two markers, i.e. the DNA base sequence polymorphism presented by the probe L1.28 defining the chromosomal segment DXS7, and the C-banding heteromorphism (Xcen) (Friedrich 1982), we were able to localize the RPX gene in Xp close to the centromere rather precisely. The gene order could be deduced by three-point linkage analysis, and the gene distances were determined by pairwise analysis using the LIPED program (Ott 1974). Together with previously published data concerning the RPX:DXS7 linkage (Bhattacharya et al. 1984) a regional gene map is constructed. Xcen-11 cM-RPX-6 cM-DXS7.
This is a preview of subscription content, log in to check access.
Buy single article
Instant access to the full article PDF.
Price includes VAT for USA
Subscribe to journal
Immediate online access to all issues from 2019. Subscription will auto renew annually.
This is the net price. Taxes to be calculated in checkout.
Bhattacharya SS, Wright AF, Clayton JF, Price WH, Philips CI, McKeown CME, Jay M, Bird AC, Pearson PL, Southern EM, Evans HJ (1984) 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
Bird AC (1975) X-linked retinitis pigmentosa. Br J Ophthalmol 59:177–199
Bunker CH, Berson EL, Bromley WC, Hayes RP, Roderick TH (1984) Prevalence of retinitis pigmentosa in Maine. Am J Ophthalmol 97:357–365
Fishman G, Cunha-Vaz JG, Salzano T (1981) Vitreous fluorophotometry in patients with retinitis pigmentosa. Arch Ophthalmol 59:1902–1907
Friedrich U (1982) C-heteromorphism in the human X chromosome. Clin Genet 21:290–291
Friedrich U, Lyngbye T, Øster J (1977) Use of banding techniques for zegosity diagnosis in twins. Acta Genet Med Gemellol (Roma) 26:89–91
Friedrich U, Horn N, Stene J (1983) Close linkage of the gene for Menkes disease to the centromere region of the human X-chromosome. Clin Genet 23:230
Grützner DK, Sanger R, Spivey BE (1972) Linkage studies in X-linked retinitis pigmentosa. Humangenetik 14:155–158
Haldane JBS (1935) The rate of spontaneous mutation of a human gene. J Genet 31:317–326
Jay M (1981) On the heredity of retinitis pigmentosa. Br J Ophthalmol 66:406–416
Keats B (1983) Genetic mapping: X Chromosome. Hum Genet 64:28–32
Klein D, Franceschetti A, Hussels I (1967a) La rétinite pigmentaire liés au sexe, la théorie de Mary Lyon et le probleme du linkage des abiotrophies choriorétiniennes avec le groupe sanguin Xg. Arch Jul Klaus-Stift f Vererbungsforsch, Sozialanthrop u Rassenhygiene 42:84–91
Klein D, Franceschetti A, Hussels I, Race RR, Sanger R (1967b) X-linked retinitis pigmentosa and linkage studies with the Xg blood-groups. Lancet i:974–975
Krogsaa B, Warburg M, Larsen M, Lund-Andersen H (1984) Carriers of X-linked retinitis pigmentosa: a fluorophotometric determination of the blood-retinal barrier permeability. Communication to the 2nd international Congress of Genetics in Ophthalmology, Ghent, May 1984
Ott J (1974) Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am J Hum Genet 26:588–597
Ropers HH, Wieacker P, Wienker TF, Davies K, Williamson R (1983) On the genetic length of the human X chromosome. Hum Genet 65:53–55
Warburg M (1967) X-linked retinitis pigmentosa. Lancet ii:566–566
Warburg M, Simonsen SE (1968) Sex-linked recessive retinitis pigmentosa. A preliminary study of the carriers. Acta Ophthalmol (Copenh) 46:494–499
Wieacker P, Horn N, Pearson P, Wienker TF, McKay E, Ropers HH (1983) Menkes kinky hair disease: a search for closely linked restriction fragment length polymorphism. Hum Genet 64:139–142
Wieacker P, Davies KE, Cooke HJ, Pearson PL, Williamson R, Bhattacharya S, Zimmer J, Ropers HH (1984) Toward a complete linkage map of the human X chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids. Am J Hum Genet 36:265–276
About this article
Cite this article
Friedrich, U., Warburg, M., Wieacker, P. et al. X-linked retinitis pigmentosa: linkage with the centromere and a cloned DNA sequence from the proximal short arm of the X chromosome. Hum Genet 71, 93–99 (1985). https://doi.org/10.1007/BF00283360
- Linkage Analysis
- Gene Order
- Gene Distance
- Retinitis Pigmentosa