An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q |
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| Authors: | Bardienb, Soraya Ebenezer, Neil Greenberg, Jacquie Inglehearn, Chris F. Bartmann, Lecia Goliath, Rene Beighton, Peter Ramesar, Rajkumar Bhattacharya, Shomi S. |
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| Affiliation: | MRC Research Unit for Medical Genetics, Department of Human Genetics, University of Cape Town Medical School Observatory 7925, South Africa 1Department of Molecular Genetics, Institute of Ophthalmology Bath Street, London EC1V 9EL, UK +Soraya Bardien is a visiting worker at the Institute of Ophthalmology London until 15 April 1995 |
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| Abstract: | Retinitis pigmentosa is one of the most common causes of severevisual handicap in middle to late life. Prior to this report,seven loci had previously been mapped for the autosomal dominantform of this disorder (adRP). We now report the identificationof a novel adRP locus on chromosome 17q. To map the new locus,we performed linkage analysis with microsatellite markers ina large South African kindred. After exclusion of 13 RP candidategene loci (including rhodopsin and peripherin-RDS), we obtainedsignificant positive lod scores at zero recombination fraction( |
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