Journal article
Autosomal dominant branchio-oto-renal syndrome—localization of a disease gene to chromosome 8q by linkage in a Dutch family
Human molecular genetics, Vol.1(7), pp.491-495
1992
DOI: 10.1093/hmg/1.7.491
PMID: 1307249
Abstract
Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder with variable clinical manifestations affecting branchial, renal and auditory development. Varying clinical expression of the disease between different families suggests that multiple loci may be involved. However, the possibility of genetic heterogeneity as the cause of clinical variability cannot be resolved until the gene(s) causing BOR syndrome are mapped. DNA from four generations of a family with autosomal dominant BOR syndrome have been typed with a series of genetic markers on the long arm of chromosome 8. Using two point linkage analysis, a significant lod score of Z = 4.0 at theta = 0.05 was obtained with the D8S165 microsatellite marker. Multipoint analyses with 8q markers place the gene for BOR between the markers D8S87 and D8S165.
Details
- Title: Subtitle
- Autosomal dominant branchio-oto-renal syndrome—localization of a disease gene to chromosome 8q by linkage in a Dutch family
- Creators
- Shrawan KumarWilliam J KimberlingJudy B KenyonRichard J H SmithHenri A. M MarresCor W. R. J Cremers
- Resource Type
- Journal article
- Publication Details
- Human molecular genetics, Vol.1(7), pp.491-495
- DOI
- 10.1093/hmg/1.7.491
- PMID
- 1307249
- NLM abbreviation
- Hum Mol Genet
- ISSN
- 0964-6906
- eISSN
- 1460-2083
- Language
- English
- Date published
- 1992
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984006425902771
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