Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Linkage of X-linked retinitis pigmentosa to the hypervariable DNA marker M27β (DXS255)

  • 35 Accesses

  • 11 Citations


A hypervariable DNA marker is closely linked to one of the most severe forms of night blindness, X-linked retinitis pigmentosa (RP). Affected individuals with X-linked RP, obligate carriers, and ophthalmologically identifiable carriers of the disease were included in a linkage study. The diagnosis was established in five sibships by funduscopic and electrophysiological investigations. When the X-linked probe M27β was used, 2 recombinants out of 29 informative meioses were detected (θ=0.07 at a maximum lod of 4.75). The hypervariable probe detected two different alleles in 38 of 39 females tested. M27β is therefore a potentially very useful probe for carrier detection and prenatal diagnosis, as well as for addressing the question of heterogeneity of X-linked RP.

This is a preview of subscription content, log in to check access.


  1. Berson EL, Rosen JB, Simonoff EA (1979) Electroretinographic testing as an aid in detection of carriers of X-chromosome-linked retinitis pigmentosa. Am J Ophthalmol 87:460–468

  2. Bhattacharya SS, Wright AF, Clayton JF, Price WH, Phillips 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

  3. Bird AC (1975) X-linked retinitis pigmentosa. Br J Ophthalmol 59: 177–199

  4. Church GM, Gilbert W (1984) Genomic sequencing. Proc Natl Acad Sci USA 81:1991–1995

  5. Davies KE, Pearson P, Harper PS, Murray JM, O'Brien T, Sarfarazi M, Williamson R (1983) Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome. Nucleic Acids Res 11: 2303–2312

  6. Denton MJ, Chen J-D, Serravalle S, Colley P, Halliday FB, Donald J (1988) Analysis of linkage relationships of X-linked retinitis pigmentosa with the following Xp loci: L1.28, OTC, 754, XJ-1.1, pERT87, and C7. Hum Genet 78:60–64

  7. Fishman GA, Weinberg AB, McMahon TT (1986) X-linked recessive retinitis pigmentosa. Clinical characteristics of carriers. Arch Ophthalmol 104:1329–1335

  8. Fishman GA, Farber MD, Derlacki DJ (1988) X-linked retinitis pigmentosa. Profile of clinical findings. Arch Ophthalmol 106:369–375

  9. Francke U, Ochs HD, Martinville B de, Giacalone J, Lindgren V, Disteche C, Pagon RA, Hofker MH, Van Ommen GJB, Pearson PL, Wedgwood RJ (1985) Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa and McLeod syndrome. Am J Hum Genet 37:250–267

  10. Fraser NJ (1987) Molecular studies of the human X and Y chromosomes. PhD thesis, University of Oxford

  11. Fraser NJ, Boyd Y, Brownlee GG, Craig IW (1987) Multi-allelic RFLP for M27β, an anonymous single-copy genomic clone at Xp11.3-Xcen (HGM9 provisional no. DXS255). Nucleic Acids Res 15:9616

  12. Friedrich U, Warburg M, Wieacker P, Wienker TF, Gal A, Ropers H-H (1985) 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

  13. Goodfellow PN, Davies KE, Ropers H-H (1985) Report of the committee on the genetic constitution of the X and Y chromosomes. (8th International Workshop on Human Gene Mapping) Cytogenet Cell Genet 40:296–352

  14. Lathrop GM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460–465

  15. Musarella MA, Argonza R, Burghes A, Kim G, Tsui LC, Worton RG (1987) Linkage analysis of X-linked retinitis pigmentosa (RP2). (9th International Workshop on Human Gene Mapping) Cytogenet Cell Genet 46:666

  16. Nakamura Y, Leppert M, O'Connell P, Wolff R, Holm T, Culver M, Martin C, Fujimoto E, Hoff M, Kumlin E, White R (1987) Variable number of tandem repeat (VNTR) markers for human gene mapping. Science 235:1616–1622

  17. Nussbaum RL, Lewis RA, Lesko JG, Ferrell R (1985) Mapping X-linked ophthalmic diseases. II. Linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markers. Hum Genet 70:45–50

  18. Reeders ST, Breuning MH, Davies KE, Nicholls RD, Jarman AP, Higgs DR, Pearson PL, Weatherall DJ (1985) A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 317:542–544

  19. Simmler MC, Johnsson C, Petit C, Rouyer F, Vergnaud G, Weissenbach J (1987) Two highly polymorphic minisatellites from the pseudoautosomal region of the human sex chromsomes. EMBO J 6:963–969

  20. Wirth B, Denton MJ, Chen J-D, Neugebauer M, Halliday FB, Schooneveld M van, Donald J, Bleeker-Wagemakers EM, Pearson PL, Gal A (1988) Two different genes for X-linked retinitis pigmentosa. Genomics 2:263–266

  21. Wright AF, Bhattacharya SS, Clayton JF, Dempster M, Tippett P, McKeown CME, Jay M, Jay B, Bird AC (1987) Linkage relationships between X-linked retinitis pigmentosa and nine short arm markers: exclusion of the disease locus from Xp21 and localisation to between DXS7 and DXS14. Am J Hum Genet 41:635–644

  22. Wright AF, Bhattacharya SS, Craig IW, Jay M, Dempster M, Fraser N, Meitinger T, Jay B, Bird AC, Evans HJ (1989) Recombinant DNA mapping of retinitis pigmentosa genes. In: Molecular biology of the eye: genes, vision and ocular disease. Liss, New York

Download references

Author information

Correspondence to Thomas Meitinger.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Meitinger, T., Fraser, N.A., Lorenz, B. et al. Linkage of X-linked retinitis pigmentosa to the hypervariable DNA marker M27β (DXS255). Hum Genet 81, 283–286 (1989). https://doi.org/10.1007/BF00279005

Download citation


  • Internal Medicine
  • Metabolic Disease
  • Blindness
  • Severe Form
  • Prenatal Diagnosis