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.