Two different genes for X-linked retinitis pigmentosa

Brunhilde Wirth, Michael J. Denton, Jia De Chen, Meinhard Neugebauer, Francis B. Halliday, Mary van Schooneveld, Jennifer Donald, Elisabeth M. Bleeker-Wagemakers, Peter L. Pearson, Andreas Gal*

*Corresponding author for this work

    Research output: Contribution to journalArticlepeer-review

    38 Citations (Scopus)


    Linkage analysis was carried out in three large multigenerational kindreds with X-linked retinitis pigmentosa using DNA markers on Xp. About 10% recombination has been found between the retinitis pigmentosa locus (RP2) and the marker locus DXS7, assigned to band Xp11.3, which was reported earlier to be closely linked to RP2 in several independent families. In the kindreds described in this paper, however, RP2 shows close linkage and no recombination with the marker loci OTC and DXS148, both assigned to Xp21, indicating that, contrary to previous linkage studies, there is evidence of an RP locus distal to DXS7. This suggests that X-linked retinitis pigmentosa is genetically heterogeneous, i.e., caused by mutations at different loci.

    Original languageEnglish
    Pages (from-to)263-266
    Number of pages4
    Issue number3
    Publication statusPublished - 1988


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