Human Genetics

, Volume 78, Issue 1, pp 60–64

Analysis of linkage relationships of X-linked retinitis pigmentosa with the following Xp loci: L1.28, OTC, 754, XJ-1.1, pERT87, and C7


  • Michael J. Denton
    • Division of PathologyPrince of Wales Hospital
  • Jia-De Chen
    • Division of PathologyPrince of Wales Hospital
  • Sara Serravalle
    • Division of PathologyPrince of Wales Hospital
  • Peter Colley
    • Division of PathologyPrince of Wales Hospital
  • Francis B. Halliday
    • Retinal Dystrophy ServicePrince of Wales Hospital
  • Jennifer Donald
    • School of Biological SciencesMacquarie University
Original Investigations

DOI: 10.1007/BF00291236

Cite this article as:
Denton, M.J., Chen, J., Serravalle, S. et al. Hum Genet (1988) 78: 60. doi:10.1007/BF00291236


A number of variants of X-linked retinitis pigmentosa (XLRP) have been described. In one variant, listed in the McKusick (McK) catalogue (McKusick 1983) as entry no. 30320, the heterozygotes exhibit a golden metallic or tapetal reflex. Three large pedigrees segregating for XLRP with the characteristic tapetal reflex in the heterozygotes were examined, and the linkage between the XLRP locus and Xp loci, L1.28, OTC, 754, XJ-1.1, pERT87 and C7 was measured. The strongest linkage was found to be between the XLRP locus and OTC. In addition, recombinational evidence drawn from the three pedigrees suggests that the XLRP locus is distal to L1.28 and proximal to 754. This putative location of the XLRP gene between L1.28 and 754 taken together with the tight linkage to OTC, a locus already located between L1.28 and 754, leads us to propose a gene order of centromere-L1.28-OTC/XLRP-754-telomere.

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© Springer-Verlag 1988