LOCALIZATION OF BRANCHIOOTORENAL (BOR) SYNDROME TO A 3 MB REGION OF CHROMOSOME 8Q

Branchio-oto-renal (BOR) syndrome is an autosomal dominant condition o f branchial arch anomalies, deafness and renal dysplasia. Clinical man ifestations tend to have considerable intrafamilial and interfamilial variability. Previous linkage studies had localized the gene responsib le for BOR syndrome to a broad region of chromosome 8q. Using 10 micro satellite markers, we have further refined the localization of this di sorder by establishing tight linkage to two markers, D8S279 and D8S530 (Z(max) = 3.91 and Z(max) = 2.83 respectively at Theta = 0.00). These markers are within 1 cM of one another. Multipoint analysis, involvin g 7 loci, placed the gene between these markers, with a lod-l confiden ce interval 0.7 cM proximal to D8S530 and 0.6 cM distal to D8S279. (C) 1994 Wiley-Liss, Inc.