Journal article
Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity
Nature genetics, Vol.5(4), pp.392-396
12/1993
DOI: 10.1038/ng1293-392
PMID: 8298649
Abstract
Bardet-Biedl syndrome is an autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, polydactyly and hypogonadism. Other findings include hypertension, diabetes mellitus and renal and cardiovascular anomalies. We have performed a genome-wide search for linkage in a large inbred Bedouin family. Pairwise analysis established linkage with the locus D16S408 with no recombination and a lod score of 4.2. A multilocus lod score of 5.3 was observed. By demonstrating homozygosity, in all affected individuals, for the same allele of marker D16S408, further support for linkage is found, and the utility of homozygosity mapping using inbred families is demonstrated. In a second family, linkage was excluded at this locus, suggesting non-allelic genetic heterogeneity in this disorder.
Details
- Title: Subtitle
- Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity
- Creators
- Anne E Kwitek-Black - Department of Pediatrics, University of Iowa, Iowa City 52242Rivka CarmiGeoffrey M DuykKenneth H BuetowKhalil ElbedourRuti ParvariChandri Naidu YandavaEdwin M StoneVal C Sheffield
- Resource Type
- Journal article
- Publication Details
- Nature genetics, Vol.5(4), pp.392-396
- DOI
- 10.1038/ng1293-392
- PMID
- 8298649
- NLM abbreviation
- Nat Genet
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- Publisher
- United States
- Grant note
- HG00457 / NHGRI NIH HHS P50HG00835 / NHGRI NIH HHS EY08426 / NEI NIH HHS
- Language
- English
- Date published
- 12/1993
- Academic Unit
- Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
- Record Identifier
- 9983979996202771
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