Document Detail

Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II).
MedLine Citation:
PMID:  8541855     Owner:  NLM     Status:  MEDLINE    
Ehlers-Danlos syndrome (EDS) is a group of heritable disorders of connective tissue with skin, ligaments and blood vessels being the main sites affected. The commonest variant (EDS II) exhibits an autosomal dominant mode of inheritance and is characterized by joint hypermobility, cigarette paper scars, lax skin and excessive bruising. As yet no gene has been linked to EDS II, nor has linkage been established to a specific region of the genome. However, several candidate genes encoding proteins of the extracellular matrix have been excluded. Using an intragenic simple sequence repeat polymorphism, we report linkage of the COL5A1 gene, which encodes the alpha 1(V) chain of type V collagen, to EDS II. A maximum LOD score (Zmax) for linkage of 8.3 at theta = 0.00 was generated for a single large pedigree.
J Loughlin; C Irven; L J Hardwick; S Butcher; S Walsh; P Wordsworth; B Sykes
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human molecular genetics     Volume:  4     ISSN:  0964-6906     ISO Abbreviation:  Hum. Mol. Genet.     Publication Date:  1995 Sep 
Date Detail:
Created Date:  1996-02-14     Completed Date:  1996-02-14     Revised Date:  2009-09-29    
Medline Journal Info:
Nlm Unique ID:  9208958     Medline TA:  Hum Mol Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  1649-51     Citation Subset:  IM    
University of Oxford, Department of Cellular Science, UK.
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MeSH Terms
Chromosome Mapping
Chromosomes, Human, Pair 9*
Collagen / genetics*
Ehlers-Danlos Syndrome / genetics*
Genetic Heterogeneity
Linkage (Genetics)*
Grant Support
//Wellcome Trust
Reg. No./Substance:

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