CHARACTERIZATION OF A TRANSLOCATION-ASSOCIATED DELETION DEFINES THE CANDIDATE REGION FOR THE GENE RESPONSIBLE FOR BRANCHIOOTORENAL SYNDROME

Fluorescence in situ hybridization analysis of an 8q translocation bre akpoint, dir ins(8)(q24.11;q13.3; q21.13), carried by an individual pr esenting with Branchio-Oto Renal (BOR) syndrome, resulted in the ident ification of an associated deletion. The generation of a YAC contig an d the isolation of overlapping recombinant P1 and lambda phage clones from the region allowed further characterization of this deletion. Its size was estimated to be between 470 and 650 kb, and it was flanked b y the two polymorphic markers D8S1060 and D8S1807. This mapping led us to reevaluate the localization of the gene responsible for BOR syndro me and has now focused the search for the BOR gene to within the limit s of this deletion. (C) 1996 Academic Press, Inc.