Investigation Including VIIIR: AG Multimeric Analysis of a Large Kindred with Type IIA von Willebrand’s Disease Showing a Dominant Inheritance and Similar Gene Expression in Four Generations

F G H Hill; M S Enayat; A J George

doi:10.1055/s-0038-1665298

Thrombosis and Haemostasis, Inhaltsverzeichnis

Thromb Haemost 1983; 50(03): 735-739
DOI: 10.1055/s-0038-1665298

Original Article

Schattauer GmbH Stuttgart

Investigation Including VIIIR: AG Multimeric Analysis of a Large Kindred with Type II_A von Willebrand’s Disease Showing a Dominant Inheritance and Similar Gene Expression in Four Generations

Autoren

F G H Hill

The Departments of Haematology, The Children’s and Queen Elizabeth Hospitals, Birmingham, England
M S Enayat

The Departments of Haematology, The Children’s and Queen Elizabeth Hospitals, Birmingham, England
A J George

The Departments of Haematology, The Children’s and Queen Elizabeth Hospitals, Birmingham, England

Abstract

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Summary

Forty-two members of a family have been studied with bleeding times, platelet aggregation, platelet retention in glass beads, measurement of factor VIII associated activity, 2-dimensional electrophoresis and multimeric analysis of factor VIII related antigen (VIIIR:AG). Eleven individuals with type II_A disease and one with asymptomatic and another with symptomatic type I disease have been studied. The degree of absence of high and intermediate multimers and the abnormal triplet configuration in the two remaining multimers was consistent in all affected family members. Multimeric analysis provides a unique and precise way of studying qualitative defects of VIIIR:AG and thereby the evaluation of gene expression in family studies.

Keywords

von Willebrand’s disease - Type II_A variants - Multimeric analysis - Genetics of von Willebrand’s disease

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Referenzen

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