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References (8)
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Lynn Goldin, Robert Elston, J. Graham, Connie Miller, Edmond Murphy (1980)
Genetic analysis of von Willebrand's disease in two large pedigrees: a multivariate approach.American journal of medical genetics, 6 4
- Publisher
- Wiley
- Copyright
- 1983 Blackwell Munksgaard
- ISSN
- 0009-9163
- eISSN
- 1399-0004
- DOI
- 10.1111/j.1399-0004.1983.tb00099.x
- Publisher site
- See Article on Publisher Site
Abstract
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, ACPI, ESD, GLOl, 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.
Journal
Clinical Genetics – Wiley
Published: Dec 1, 1983
Keywords: HLA; linkage analysis; von Willebrand disease