Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests.

Journal Article (Journal Article)

Multilocus linkage analysis of 62 family pedigrees with X chromosome-linked retinitis pigmentosa (XLRP) was undertaken to determine the presence of possible multiple disease loci and to reliably estimate their map location. Multilocus homogeneity tests furnished convincing evidence for the presence of two XLRP loci, the likelihood ratio being 6.4 x 10(9):1 in favor of two versus a single XLRP locus and gave accurate estimates for their map location. In 60-75% of the families, location of an XLRP gene was estimated at 1 centimorgan distal to OTC, and in 25-40% of the families, an XLRP locus was located halfway between DXS14 (p58-1) and DXZ1 (Xcen), with an estimated recombination fraction of 25% between the two XLRP loci. There is also good evidence for a third XLRP locus, midway between DXS28 (C7) and DXS164 (pERT87), supported by a likelihood ratio of 293:1 for three versus two XLRP loci.

Full Text

Duke Authors

Cited Authors

  • Ott, J; Bhattacharya, S; Chen, JD; Denton, MJ; Donald, J; Dubay, C; Farrar, GJ; Fishman, GA; Frey, D; Gal, A

Published Date

  • January 1990

Published In

Volume / Issue

  • 87 / 2

Start / End Page

  • 701 - 704

PubMed ID

  • 2300556

Pubmed Central ID

  • PMC53333

International Standard Serial Number (ISSN)

  • 0027-8424

Digital Object Identifier (DOI)

  • 10.1073/pnas.87.2.701


  • eng

Conference Location

  • United States