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
Authors: Gu J.Z.1; Wagner M.J.2; Haan E.A.3; Wells D.E.1
Source: Genomics, Volume 31, Number 2, January 1996 , pp. 201-206(6)
Publisher: Academic Press
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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.
Language: English
Document Type: Research article
Affiliations: 1: Department of Biology and Institute for Molecular Biology, University of Houston, 4800 Calhoun, Houston, Texas, 77204 2: Department of Human Genetics, Glaxo Wellcome Inc., 5 Moore Drive, Research Triangle Park, North Carolina, 27709 3: Department of Medical Genetics, Adelaide Children's Hospital, 72 King William Road, North Adelaide, South Australia, 5006, Australia
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