Article
Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis.
American journal of medical genetics - 1 Jun 1994
Ni L, Wagner M J, Kimberling W J, Pembrey M E, Grundfast K M, Kumar S, Daiger S P, Wells D E, Johnson K, Smith R J
Abstract excerpt
Branchiootorenal (BOR) syndrome is a common autosomal dominant form of hearing impairment previously mapped to 8q. This report refines the localization of the BOR syndrome gene by haplotype analysis to the interval flanked by markers D8S553 and D8S286. By multipoint linkage analysis, the disease...
Topics
- Branchial Region
- Chromosome Mapping
- Genetic Linkage
- Genotype
- Haplotypes
- Hearing Loss
- Humans
- Kidney
- Pedigree
- Phenotype