LINKAGE OF A MEDIUM-SIZED SCOTTISH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA FAMILY TO CHROMOSOME 7Q

Retinitis pigmentosa is a group of hereditary retinopathies which is b oth clinically and genetically heterogeneous. Autosomal dominant (ADRP ), autosomal recessive (ARRP), and X linked recessive (XLRP), as well as digenic forms of inheritance have been reported. ADRP has been link ed to 3q, 6p, 7p, 7q, Been, 17p, 17q, and 19q. Three unrelated ADRP fa milies have been reported to show linkage to 7q. We tested a Scottish ADRP family with a microsatellite markers mapping within the 7q31-q35 region, and found three markers (D7S487, D7S514, D7S530) showing stati stically significant evidence of linkage. A maximum two point lod scor e of 3.311 at 0% recombination was obtained for D7S514.