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© 1994 Oxford University Press

OTHER

Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p

James A. Knowles1, Yin Shugart2, Poulabl Banerjee2, T.Conrad Gilllam1,2, Charies A. Lewis3, Samuel G. Jacobson4 and Jurg Ott1,2,*

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

*To whom correspondence should be addressed at: New York State Psychiatric Institute, 722 W. 168th Street, Unit 58, New York, NY 10032, USA

Received June 13, 1994; Revised June 13, 1994; Accepted June 13, 1994

We performed a genomic search for linkage to autosomal recessive retlnitis pigmentosa In a large pedigree obtained from the Dominican Republic using microsatelllte markers. Regions of the genome known to contain genes for retlnltis pigmentosa were preferentially tested. One of these regions, on chromosome 6p, which contains the gene for peripherin, gave positive lod scores. Use of a mononucleotide repeat polymorphism In the peripherin gene excluded this locus. Two- and multi-point analyses suggest that the most likely location for the disease gene is near D6S291, which Is located approximately 20 centlmorgans telomeric from peripherin.


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