Journal article
Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping
Human molecular genetics, Vol.3(8), pp.1331-1335
08/1994
DOI: 10.1093/hmg/3.8.1331
PMID: 7987310
Abstract
Bardet-Biedl syndrome is an autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, polydactyly and hypogonadism. Individuals with this disorder also have an increased incidence of hypertension, diabetes mellitus, and renal and cardiac anomalies. We previously identified a locus on chromosome 16 causing this disorder, and provided evidence that Bardet-Biedl syndrome is heterogeneous. In this study, we identify another Bardet-Biedl syndrome locus on chromosome 3 and confirm the non-allelic heterogeneity of this disorder in Bedouin populations. In addition, we demonstrate the feasibility of using pooled DNA samples from members of large kindreds as an efficient approach to homozygosity mapping.
Details
- Title: Subtitle
- Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping
- Creators
- Val C Sheffield - Department of Pediatrics, University of Iowa, Iowa City 52242-1083Rivka CarmiAnne Kwitek-Black - University of IowaTatiana Rokhlina - University of IowaDarryl NishimuraGeoffrey M DuykKhalil ElbedourSara L Sunden - University of IowaEdwin M Stone
- Resource Type
- Journal article
- Publication Details
- Human molecular genetics, Vol.3(8), pp.1331-1335
- DOI
- 10.1093/hmg/3.8.1331
- PMID
- 7987310
- NLM abbreviation
- Hum Mol Genet
- ISSN
- 0964-6906
- eISSN
- 1460-2083
- Publisher
- England
- Grant note
- P50HL42266 / NHLBI NIH HHS HG00457 / NHGRI NIH HHS P50HG00835 / NHGRI NIH HHS
- Language
- English
- Date published
- 08/1994
- Academic Unit
- Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
- Record Identifier
- 9983979985602771
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