Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests
Autor: | Jennifer A. Donald, G J Farrar, C Dubay, J D Chen, Gerald A. Fishman, Michael J. Denton, D Frey, Shomi S. Bhattacharya, A Gal, Jurg Ott |
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Rok vydání: | 1990 |
Předmět: |
Genetic Markers
Recombination Genetic Genetics X Chromosome Multidisciplinary Models Genetic Genetic Linkage Chromosome Mapping Locus (genetics) Pedigree chart Retinitis pigmentosa GTPase regulator Biology eye diseases Centimorgan Gene mapping Genetic linkage Genetic marker Humans Retinitis Pigmentosa X chromosome Research Article |
Zdroj: | Proceedings of the National Academy of Sciences. 87:701-704 |
ISSN: | 1091-6490 0027-8424 |
DOI: | 10.1073/pnas.87.2.701 |
Popis: | 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. |
Databáze: | OpenAIRE |
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