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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.

Original publication

DOI

10.1093/hmg/4.9.1649

Type

Journal article

Journal

Human molecular genetics

Publication Date

09/1995

Volume

4

Pages

1649 - 1651

Addresses

University of Oxford, Department of Cellular Science, UK.

Keywords

Chromosomes, Human, Pair 9, Humans, Ehlers-Danlos Syndrome, Collagen, Chromosome Mapping, Pedigree, Genetic Heterogeneity, Female, Male, Genetic Linkage