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Genetic mapping of RP1 on 8q11-q21 in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical region to 4 cM between D8S601 and D8S285 |
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| Authors: | Su-Ying Xu Michael Denton Lori Sullivan Stephen P Daiger A Gal |
| Institution: | Institut für Humangenetik, Universit?ts-Krankenhaus Eppendorf, Butenfeld 32, D-22529 Hamburg, Germany Tel.: +49-40-4717-2120; Fax: +49-40-4717-5138, DE Biochemistry Department, University of Otago, Box 56, Dunedin, New Zealand, NZ Human Genetics Center, School of Public Health, and Department of Ophthalmology and Visual Science, The University of Texas, P.O. Box 20334, Houston, TX 77030, USA, US |
| Abstract: | The locus (RP1) for one form of autosomal dominant retinitis pigmentosa (adRP) was mapped on chromosome 8q11-q22 between D8S589 and D8S285, which are about 8 cM apart, by linkage analysis in an extended family ascertained in the USA. We have studied a multigeneration Australian family with adRP and found close linkage without recombination between the disease locus and D8S591, D8S566, and D8S166 (Zmax = 1.137– 4.650 at θ = 0.00), all mapped in the region known to harbor RP1. Assuming that the mutation of the same gene is responsible for the disease in both families, the analysis of multiply informative meioses in the American and Australian families places the adRP locus between D8S601 and D8S285, which reduces the critical region to about 4 cM, corresponding to approximately 4 Mb, which is completely covered by a yeast artificial chromosome contig assembled recently. Received: 23 April 1996 / Accepted: 3 July 1996 |
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