Journal article
Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4
Nature genetics, Vol.2(1), pp.46-49
09/1992
DOI: 10.1038/ng0992-46
PMID: 1303248
Abstract
Rieger syndrome is an autosomal dominant disorder of morphogenesis in which previous cytogenetic arrangements have suggested chromosome 4 as a candidate chromosome. Using a group of highly polymorphic short tandem repeat polymorphisms (STRP), including a new tetranucleotide repeat for epidermal growth factor (EGF), significant linkage of Rieger syndrome to 4q markers has been identified. Tight linkage to EGF supports its role as a candidate gene, although a recombinant in an unaffected individual has been identified. This study demonstrates the utility of using polymorphic STRP markers when only a limited number of small families are available for study.
Details
- Title: Subtitle
- Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4
- Creators
- Jeffrey C MurraySteven R BennettAnne E KwitekKent W SmallAlbert SchinzelWallace L.M AlwardJames L WeberGraeme I BellKenneth H Buetow
- Resource Type
- Journal article
- Publication Details
- Nature genetics, Vol.2(1), pp.46-49
- DOI
- 10.1038/ng0992-46
- PMID
- 1303248
- NLM abbreviation
- Nat Genet
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- Language
- English
- Date published
- 09/1992
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research; Ophthalmology and Visual Sciences
- Record Identifier
- 9984025354402771
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