Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis

Journal Article · Wed Jun 01 00:00:00 EDT 1994 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320510222· OSTI ID:67947

Ni, L; Johnson, K; Smith, R J.H. ^[1]; Wagner, M J; Wells, D E ^[2]; Kimberling, W J; Kumar, S ^[3]; Pembrey, M E ^[4]; Grundfast, K M ^[5]; Daiger, S P ^[6]

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1. Univ. of Iowa, Iowa City, IA (United States)
2. Univ. of Houston, TX (United States)
3. Boys Town National Research Hospital, Omaha, NB (United States)
4. Institute of Child Health, London (United Kingdom)
5. Washington Children`s Hospital, DC (United States)
6. Univ. of Texas Health Science Center, Houston, TX (United States)

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 locus most likely is flanked by markers D8S530 and D8S279. 31 refs., 4 figs., 2 tabs.

• Sponsoring Organization: USDOE
• OSTI ID: 67947
• Journal Information: American Journal of Medical Genetics, Vol. 51, Issue 2; Other Information: PBD: 1 Jun 1994
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN CHROMOSOME 8
CHROMOSOMAL ABERRATIONS
GENETIC MAPPING
GENES
STATISTICAL MODELS
HUMAN POPULATIONS
HEREDITARY DISEASES
SENSE ORGANS DISEASES
DOMINANT MUTATIONS