Narrowing the genetic interval and yeast artificial chromosome map in the branchio-oto-renal region on chromosome 8q
- Boys Town National Research Hospital, Omaha, NE (United States); and others
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial abnormality, hearing loss, and renal anomalies. Recently, the disease gene has been localized to chromosome 8q. Here, we report genetic studies that further refine the disease gene region to a smaller interval and identify several YACs from the critical region. We studied two large, clinically well-characterized BOR families with a set of 13 polymorphic markers spanning the D8S165-D8S275 interval from the chromosome 8q region. Based on multipoint analysis, the highest likelihood for the location of the BOR gene is between markers D8S543 and D8S530, a distance of about 2 cM. YACs that map in the BOR critical region have been identified and characterized by fluorescence in situ hybridization and pulsed-field gel electrophoresis. A YAC contig, based on the STS content map, that covers a minimum of 4 Mb of human DNA in the critical region of BOR is assembled. This lays the groundwork for the construction of a transcriptional map of this region and the eventual identification of genes involved in BOR syndrome. 40 refs., 4 figs., 1 tab.
- OSTI ID:
- 478836
- Journal Information:
- Genomics, Journal Name: Genomics Journal Issue: 1 Vol. 31; ISSN GNMCEP; ISSN 0888-7543
- Country of Publication:
- United States
- Language:
- English
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BASIC STUDIES
BIOLOGICAL MARKERS
CHIMERAS
CONTIGS
DESIGN
DNA HYBRIDIZATION
DNA-CLONING
DOMINANT MUTATIONS
ELECTROPHORESIS
FLUORESCENCE
GENES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 8
PATHOLOGY
PATIENTS
POLYMERASE CHAIN REACTION
RESOLUTION
RESPIRATORY SYSTEM DISEASES
SENSE ORGANS DISEASES
STATISTICS
TRANSCRIPTION
UROGENITAL SYSTEM DISEASES