Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p |
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| Authors: | Knowles, James A. Shugart, Yin Banerjee, Poulabl Gilllam, T.Conrad Lewis, Charies A. Jacobson, Samuel G. Ott, Jurg |
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| Affiliation: | 1Department of Psychitry, College of Physicians and Surgeons at Columbia University and New York State Psychiatric Institute New York, NY 10032 2Department of Genetics & Development, College of Physicians and Surçeons at Columbia University New York, NY 3Mayo Family Medical Services Mayo, FL 4Department of Ophthalmology, University of Miami School of Medicine, Bascom Palmer Eye Institute Miami, FL, USA |
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| Abstract: | We performed a genomic search for linkage to autosomal recessiveretlnitis pigmentosa In a large pedigree obtained from the DominicanRepublic using microsatelllte markers. Regions of the genomeknown to contain genes for retlnltis pigmentosa were preferentiallytested. One of these regions, on chromosome 6p, which containsthe gene for peripherin, gave positive lod scores. Use of amononucleotide repeat polymorphism In the peripherin gene excludedthis locus. Two- and multi-point analyses suggest that the mostlikely location for the disease gene is near D6S291, which Islocated approximately 20 centlmorgans telomeric from peripherin. |
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