Linkage analysis in von Willebrand disease

Autor: Joe Leigh Simpson, P. M. Conneally, R. M. Radvany, V. A. Patel, Marion S. Verp, Alice O. Martin, David Green
Rok vydání: 2008
Předmět:
Zdroj: Clinical Genetics. 24:434-438
ISSN: 1399-0004
0009-9163
Popis: 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.
Databáze: OpenAIRE
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