DETECTION OF A MEGABASE DELETION IN A PATIENT WITH BRANCHIOOTORENAL SYNDROME (BOR) AND TRICHORHINOPHALANGEAL SYNDROME (TRPS) - IMPLICATIONSFOR MAPPING AND CLONING THE BOR GENE

Genetic linkage analysis has previously mapped the locus for the autos omal dominant disorder branchioto-renal syndrome (BOR) to the pericent ric region of chromosome 8q. A YAC contig spanning the putative BOR re gion, from D8S543 to D8S541, was constructed and confirmed by sequence -tagged site content mapping using microsatellite markers and by DNA h ybridization analysis. YACs spanning the BOR interval were used as flu orescence in situ hybridization probes on a cell line from a patient w ith BO and tricho-rhino-phalangeal syndrome I that involves a chromoso me 8q rearrangement. In addition to the cytogenetically defined direct insertion of material from 8q13.3-q21.13 into 8q24.11, a previously u nidentified deletion of just under one megabase was found in 8q13.3. T hese data narrowed the most likely location of the BOR gene to a regio n corresponding to the proximal two-thirds of YAG 869E10 between D8S54 3 and D8S279. (C) 1996 Academic Press, Inc.