LINKAGE OF THE GENE THAT ENCODES THE ALPHA-1 CHAIN OF TYPE-V COLLAGEN(COL5A1) TO TYPE-II EHLERS-DANLOS SYNDROME (EDS-II)

Ehlers-Danlos syndrome (EDS) is a group of heritable disorders of conn ective tissue with skin, ligaments and blood vessels being the main si tes affected. The commonest variant (EDS II) exhibits an autosomal dom inant mode of inheritance and is characterized by joint hypermobility, cigarette paper scars, lax skin and excessive bruising. As yet no gen e has been linked to EDS II, nor has linkage been established to a spe cific region of the genome. However, several candidate genes encoding proteins of the extracellular matrix have been excluded. Using an intr agenic simple sequence repeat polymorphism, we report linkage of the C OL5A1 gene, which encodes the alpha 1 (V) chain of type V collagen, to EDS II. A maximum LOD score (Z(max)) for linkage of 8.3 at theta = 0. 00 was generated for a single large pedigree.