Document Detail

Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4.
MedLine Citation:
PMID:  1303248     Owner:  NLM     Status:  MEDLINE    
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.
J C Murray; S R Bennett; A E Kwitek; K W Small; A Schinzel; W L Alward; J L Weber; G I Bell; K H Buetow
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Nature genetics     Volume:  2     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  1992 Sep 
Date Detail:
Created Date:  1993-06-23     Completed Date:  1993-06-23     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  46-9     Citation Subset:  IM    
Department of Pediatrics, University of Iowa, Iowa City 52242.
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MeSH Terms
Abnormalities, Multiple / genetics*
Anterior Eye Segment / abnormalities
Base Sequence
Chromosomes, Human, Pair 4*
DNA / genetics
Epidermal Growth Factor / genetics*
Genes, Dominant
Genetic Markers
Linkage (Genetics)
Molecular Sequence Data
Repetitive Sequences, Nucleic Acid
Tooth Abnormalities / genetics
Reg. No./Substance:
0/Genetic Markers; 62229-50-9/Epidermal Growth Factor; 9007-49-2/DNA

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