Linkage analysis in von Willebrand disease

Abstract
A 3-generation kindred was studied to determine whether the gene rsponsible for 1 form of von Willebrand disease (vWD) is linked to the HLA locus or to a polymorphic locus for a serum enzyme or red cell antigen. HLA haplotypes were determined in 12 affected family members, in 10 cases by direct analysis and in 2 cases by deduction. Of 12 affected individuals, 7 were A2, B7, as compared to 0 of 9 unaffected. The maximum lod score was only 0.41 at a recombination frequency of 0.2. Of the 17 serum red cell and plasma protein marker studied, did not segregate and 12 gave lod scores less than +1.0. There is no strong evidence for linkage between the locus for vWD and any of the markers studied.