Narrowing the genetic interval and yeast artificial chromosome map in the branchio-oto-renal region on chromosome 8q

Journal Article · Mon Jan 01 00:00:00 EST 1996 · Genomics

DOI:https://doi.org/10.1006/geno.1996.0011· OSTI ID:478836

Kumar, Shrawan; Kimberling, W J; Pinnt, J ^[1]

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1. 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, Vol. 31, Issue 1; Other Information: PBD: 1 Jan 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN CHROMOSOME 8
GENETIC MAPPING
DNA-CLONING
RESOLUTION
HEREDITARY DISEASES
PATHOLOGY
PATIENTS
SENSE ORGANS DISEASES
UROGENITAL SYSTEM DISEASES
RESPIRATORY SYSTEM DISEASES
GENES
TRANSCRIPTION
CONTIGS
DESIGN
DOMINANT MUTATIONS
BIOLOGICAL MARKERS
DNA HYBRIDIZATION
FLUORESCENCE
ELECTROPHORESIS
STATISTICS
POLYMERASE CHAIN REACTION
CHIMERAS