To investigate the role of COL5A1 as a candidate gene for Ehlers-Danlos syndrome 
(EDS), we have carried out linkage studies in two large British families with 
EDS type I/II and type II, respectively. Fourteen living, affected individuals 
were identified by family history, clinical examination and ultrastructural 
analysis. A polymorphic intragenic simple sequence repeat at the COL5A1 locus 
showed linkage to EDS without recombination to give a combined lod score of 5.7. 
We have previously reported linkage to COL5A1 in an EDS type I/II family which 
brings the total lod score to 9.8 at zero recombination. Taken together, these 
data implicate COL5A1 as an important cause of EDS and confirm that types I and 
II are allelic.