title: Detection of a megabase deletion in a patient with branchio-oto-renal syndrome (BOR) and tricho-rhino-phalangeal syndrome (TRPS): implications for mapping and cloning the BOR gene.
abstract: Genetic linkage analysis has previously mapped the locus for the autosomal dominant disorder branchio-oto-renal syndrome (BOR) to the pericentric region of chromosome 8q. A YAC contig spanning the putative BOR region, from D8S543 to D8S541, was constructed and confirmed by sequence-tagged site content mapping using microsatellite markers and by DNA hybridization analysis. YACs spanning the BOR interval were used as fluorescence in situ hybridization probes on a cell line from a patient with BO and tricho-rhino-phalangeal syndrome I that involves a chromosome 8q rearrangement. In addition to the cytogenetically defined direct insertion of material from 8q13.3-q21.13 into 8q24.11, a previously unidentified deletion of just under one megabase was found in 8q13.3. These data narrowed the most likely location of the BOR gene to a region corresponding to the proximal two-thirds of YAC 869E10 between D8S543 and D8S279.
authors.affiliation: Department of Biology and Institute for Molecular Biology, University of Houston, Texas 77204, USA.
authors.forename: J Z
authors.initials: JZ
authors.lastname: Gu
authors.forename: M J
authors.initials: MJ
authors.lastname: Wagner
authors.forename: E A
authors.initials: EA
authors.lastname: Haan
authors.forename: D E
authors.initials: DE
authors.lastname: Wells
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001483:Base Sequence; D001934:Branchial Region / Q000002:abnormalities*; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast / Q000235:genetics; D003001:Cloning, Molecular; D017931:DNA Primers; D006311:Hearing Disorders / Q000235:genetics*; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D015826:Langer-Giedion Syndrome / Q000235:genetics*; D008969:Molecular Sequence Data; D017384:Sequence Deletion
chemical_list: D017931:DNA Primers