Elsevier

Genomics

Volume 31, Issue 2, 15 January 1996, Pages 201-206
Genomics

Regular Article
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

https://doi.org/10.1006/geno.1996.0032Get rights and content

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 fluorescencein situhybridization 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.

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