Linkage analysis in von Willebrand disease.
We studied a 3-generation kindred to determine whether the gene responsible for one form of von Willebrand disease (vWD) is linked to 1) the HLA locus, or 2) 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. Seven of 12 affected individuals were A2, B7, as compared to 0 of 9 unaffected. However, the maximum lod score was only 0.41 at a recombination frequency of 0.2. Of the 17 serum red cell and plasma protein markers studied, 5 (Kell, ADA, AK1, BF, GC) did not segregate, and 12 (ABO, Rh, JK, Fy, P, PGM1, ACP1, ESD, GLO1, MN, HP, GPT) gave lod scores less than + 1.0. We conclude that there is no strong evidence for linkage between the locus for vWD and any of the markers studied.
D001798:Blood Proteins / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D006680:HLA Antigens / Q000235:genetics; D006238:Haploidy; D006801:Humans; D008297:Male; D014842:von Willebrand Diseases / Q000235:genetics*
D001798:Blood Proteins; D006680:HLA Antigens