Localizing Multiple X Chromosome-Linked Retinitis Pigmentosa Loci
Using Multilocus Homogeneity Tests
J. Ott, S. Bhattacharya, J.D. Chen, M.J. Denton, J. Donald,
C. Dubay, G.J. Farrar, G.A. Fishman, D. Frey, A. Gal, P. Humphries,
B. Jay, M. Jay, M. Litt, M. Machler M. Musarella, M. Neugebauer,
R.L. Nussbaum, J.D. Terwilliger, G.G. Weleber, B. Wirth, F. Wong,
R.G. Worton, A.F. Wright
Proceedings of the National Academy of Sciences of the
United States of America
87(2),701--704 (1990 Jan)
Abstract
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.
