Carrier Detection in Severe (Type III) von Willebrand Disease Using Two Intragenic Restriction Fragment Length Polymorphisms

B R Bahnak; J M Lavergne; C L Verweij; C Rothschild; H Pannekoek; M J Larrieu; D Meyer

doi:10.1055/s-0038-1647025

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 1988; 60(02): 178-181
DOI: 10.1055/s-0038-1647025

Original Article

Schattauer GmbH Stuttgart

Carrier Detection in Severe (Type III) von Willebrand Disease Using Two Intragenic Restriction Fragment Length Polymorphisms

B R Bahnak

INSERM U.143, Hôpital de Bicêtre, Paris, France, The Netherlands

,

J M Lavergne

INSERM U.143, Hôpital de Bicêtre, Paris, France, The Netherlands

,

C L Verweij

¹Central Laboratory of the Netherlands Red Cross Blood Transfusion Service, Amsterdam, The Netherlands

²Current address: Stanford University, School of Medicine, Stanford, CA 94305, USA

,

C Rothschild

¹Central Laboratory of the Netherlands Red Cross Blood Transfusion Service, Amsterdam, The Netherlands

,

H Pannekoek

¹Central Laboratory of the Netherlands Red Cross Blood Transfusion Service, Amsterdam, The Netherlands

,

M J Larrieu

INSERM U.143, Hôpital de Bicêtre, Paris, France, The Netherlands

,

D Meyer

INSERM U.143, Hôpital de Bicêtre, Paris, France, The Netherlands

› Author Affiliations

Abstract

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Summary

DNA from a family with a female member affected with severe (type III) vWD was analysed using three restriction enzymes and a partial vWF cDNA probe. Two restriction fragment length polymorphisms (RFLPs) detected with the enzymes Bgl II and Xba I proved to be informative in this family. A 36.0 Kb allele, demonstrated with the enzyme Xba I was rare in the general population but very important in this family for segregation analysis of the alleles and their association with the putative defective chromosome. The propositus was homozygous for the 36.0 Kb Xba I polymorphic band and heterozygous for the Bgl II polymorphism. She was the only member of the family showing this allelic pattern. The linkage of the alleles could be determined because her mother was homozygous for the 9.0 Kb Bgl II polymorphism but heterozygous for the Xba I polymorphism. The segregation of the alleles could be traced to the proband’s son and a niece. The genotypic analysis revealed that her niece could be considered as carrying a defective gene for severe vWD.

Keywords

Von Willebrand factor - von Willebrand disease - Restriction fragment length polymorphisms

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References

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