Genetic mapping of the branchio-oto-renal syndrome and construction of YAC contig spanning the BOR region on chromosome 8q
- Boys Town National Research Hospital, Omaha, NE (United States)
- Univ. of Nebraska Medical Center, Omaha, NE (United States); and others
Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder which consists of external, middle and inner ear malformations, branchial cleft sinuses, cervical fistulas, mixed hearing loss and renal anomalies. The prevalence of BOR syndrome is approximately 1:40,000, and it has been reported to occur in about 2% of profoundly deaf children. The BOR syndrome has been localized to chromosome 8q. Initial localization results indicated a distance of about 15 cM between the flanking markers D8S87 and PENK for the BOR gene. This localization has been further refined, using new markers, to a distance of about 7 cM. The multipoint analysis was carried out using markers D8S285, PENK, D8S166, D8S260, D8S510, D8S553, D8S543, D8S530, D8S279, D8S164, D8S286 and D8S275. For cloning the BOR gene, an overlapping Yeast Artificial Chromosome (YAC) contig map of the critical region is being constructed. We have isolated eight YACs from the CEPH Mega YAC library and their size and quality are being characterized by PFGE and FISH analysis. Additional STSs and polymorphic markers developed from the region will be used to further refine the region and close the contig. The availability of this contig will be a useful resource for the systematic search for identifying transcribed sequences from this region.
- OSTI ID:
- 134804
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-1543
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
BASIC STUDIES
GENES
GENETIC MAPPING
HUMAN CHROMOSOME 8
TRANSCRIPTION
DNA SEQUENCING
PATIENTS
HEREDITARY DISEASES
SENSE ORGANS DISEASES
CONGENITAL MALFORMATIONS
DISEASE INCIDENCE
CONTIGS
DESIGN
DNA HYBRIDIZATION
DOMINANT MUTATIONS
YEASTS
BIOLOGICAL MARKERS
ELECTROPHORESIS
FLUORESCENCE