Linkage analysis in von Willebrand disease

M. S. Verp*, R. M. Radvany, D. Green, P. M. Conneally, V. A. Patel, A. O. Martin, J. L. Simpson

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)434-438
Number of pages5
JournalClinical Genetics
Volume24
Issue number6
DOIs
StatePublished - Dec 1983

Keywords

  • HLA
  • linkage analysis
  • von Willebrand disease

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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