Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests
- New York State Psychiatric Institute, New York (USA)
- Univ. of Newcastle upon Tyne (England)
- Prince of Wales Hospital, Randwick (Australia)
- Oregon Health Sciences Univ., Portland (USA)
- Trinity College, Dublin (Ireland)
- Univ. of Illinois, Chicago (USA)
- Institute of Medical Genetics, Zurich (Switzerland)
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 reliability estimate their map location. Multilocus homogeneity tests furnish convincing evidence for the presence of two XLRP loci, the likelihood ratio being 6.4 {times} 10{sup 9}:1 in a 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 third XLRP locus, midway between DXS28 (C7) and DXS164 (pERT87), supported by a likelihood ratio of 293:1 for three versus two XLRP loci.
- OSTI ID:
- 7063857
- Journal Information:
- Proceedings of the National Academy of Sciences of the United States of America; (USA), Vol. 87:2; ISSN 0027-8424
- Country of Publication:
- United States
- Language:
- English
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