Isolation of a 2 Mb YAC contig emcompassing the Branchio-Oto-Renal (BOR) syndrome locus in 8q13.3

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:134491

Wang, Y ^[1]; Treat, K ^[2]; Schroer, R J ^[3]

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1. Greenwood Genetic Center, Greenwood, SC (United States)
2. Beth Israel Hospital, Boston, MA (United States)
3. CEPH, Paris (France); and others

Branchio-oto-rental (BOR) syndrome is an autosomal dominant disorder characterized by an association of branchial arch anomalies, deafness and renal dysplasia. Clinical manifestations tend to have considerable intrafamilial and interfamilial variability. Previous linkage studies had localized the gene responsible for BOR syndrome to a broad region of chromosome 8q. Using ten microsatelite markers, we have further refined the localization of this disorder by establishing tight linkage to two markers, D8S279 and D8S530 (Z{sub max}=.91 and Z{sub max}=2.83, respectively, at {theta}=0.00). Multipoint analysis, involving 7 loci, placed the gene between these markers, with a Lod-1 confidence 0.7 cM proximal to D8S530 and .06 cM distal to D8S279. Haplotype analysis placed the gene distal to D8S543 and proximal to D8S84. We identified 4 YACs positive for both D8S530 and D8S279. These YACs were mapped to 8q13-q21 in a patient with a deletion and multiple anomalies. Using one of the YACs for FISH analysis on a patient with BOR and a dir ins (8)(q24.11q13.3q21.13) chromosome, we failed to detect any crossing of the breakpoint at 8q13.3. Subsequently, we identified 6 YACs positive for D8S543 which is proximal to D8S530. None were positive for D8S530. Using Alu-PCR fingerprinting we have detected possible overlaps between these 2 sets of YACs. The overlapping YACs are presently being used for FISH analysis of the patient with the breakpoint at 8q13.3. At the same time cDNA selection is being conducted with these YACs using a human fetal cochlea cDNA library in the hope of identifying a candidate gene for the BOR syndrome.

• OSTI ID: 134491
• Report Number(s): CONF-941009--
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOLOGICAL MARKERS
CHROMOSOMAL ABERRATIONS
CONGENITAL MALFORMATIONS
CONTIGS
DNA HYBRIDIZATION
DOMINANT MUTATIONS
FLUORESCENCE
GENES
GENETIC MAPPING
GENETICS
HEREDITARY DISEASES
HUMAN CHROMOSOME 8
PATIENTS
PHENOTYPE
POLYMERASE CHAIN REACTION
SENSE ORGANS DISEASES
STATISTICS
YEASTS