Display Settings:

Format

Send to:

Choose Destination
    Blood. 1979 Jul;54(1):137-45.

    Genetics of classic von Willebrand's disease. II. Optimal assignment of the heterozygous genotype (diagnosis) by discriminant analysis.

    Abstract

    In classic von Willebrand's disease (vWd), assignment of the heterozygous genotype for genetic studies and diagnosis for clinical purposes (which are not exactly the same) are formidable problems. We have pointed out in the first report in this series that almost 50% of the members of two large kindred who transmitted this disease, and were therefore heterozygous, were scored as normal by the usual tests of hemostasis. This report describes how this large proportion can be significantly reduced by application of discriminant analysis. Using linear discriminants in three variables--coagulation factor VIII (VIII:C), factor-VII-related antigen (VIIIR:Ag), and the ristocetin cofactor related to factor VIII (VIIIR:WF)--we were able to classify as heterozygous more than 80% of the transmitters in the two large kindred. It was of particular interest that the four parents of two related vWd homozygotes could be scored as heterozygous by discriminant analysis even though all their laboratory tests were within the normal ranges.

    PMID:
    312669
    [PubMed - indexed for MEDLINE]
    Free full text

      Supplemental Content

      Icon for HighWire Press

      Save items

      loading

      Recent activity

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...
      Write to the Help Desk