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*, Jia De Chen, Sara Serravalle, Peter Colley, Francis B. Halliday, Jennifer Donald

*Corresponding author for this work

Research output: Contribution to journalArticle

38 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)60-64
Number of pages5
JournalHuman Genetics
Volume78
Issue number1
DOIs
Publication statusPublished - Jan 1988

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