Publication:

Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II) (1995)

Author(s): J. Loughlin;C. Irven;L. J. Hardwick;S. Butcher;S. Walsh;P. Wordsworth;B. Sykes

  • : Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II)

Abstract: 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.

Notes: Journal Article Research Support, Non-U.S. Gov't England

  • Short Title: Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II)
  • Alternate Journal: Human molecular genetics
  • Date: Sep
  • Journal: Hum Mol Genet
  • Volume: 4
  • Issue: 9
  • Pages: 1649-51
  • Publication type: Article
  • Bibliographic status: Published

Keywords: Chromosome Mapping *Chromosomes, Human, Pair 9 Collagen/*genetics Ehlers-Danlos Syndrome/*genetics Female Genetic Heterogeneity Humans *Linkage (Genetics) Male Pedigree

Staff

Professor John Loughlin
Prof of Musculoskeletal Research