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    
Abstract/OtherAbstract:
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.
Authors:
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
Related Documents :
8619528 - Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1.
16151908 - Mtdna single macrodeletions associated with myopathies: absence of haplogroup-related i...
10565538 - Isolation and characterization of novel cag repeat containing genes expressed in human ...
6308398 - X chromosome nucleolus organizer mutants which alter major type i repeat multiplicity i...
16472378 - Coarctation of the aorta and mild to moderate developmental delay in a child with a de ...
3535068 - An alternative pathway for meiotic chromosome segregation in yeast.
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    
Affiliation:
Department of Pediatrics, University of Iowa, Iowa City 52242.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Anterior Eye Segment / abnormalities
Base Sequence
Chromosomes, Human, Pair 4*
DNA / genetics
Epidermal Growth Factor / genetics*
Female
Genes, Dominant
Genetic Markers
Humans
Linkage (Genetics)
Male
Molecular Sequence Data
Pedigree
Repetitive Sequences, Nucleic Acid
Tooth Abnormalities / genetics
Chemical
Reg. No./Substance:
0/Genetic Markers; 62229-50-9/Epidermal Growth Factor; 9007-49-2/DNA

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  A frameshift mutation in the gamma E-crystallin gene of the Elo mouse.
Next Document:  Distinct and overlapping functions of allelic forms of human mannose binding protein.