IngentaConnect Laboratory methods for the genetic diagnosis of bleeding disorder...

Author: GOODEVE¹

Source: Clinical & Laboratory Haematology, Volume 20, Number 1, February 1998 , pp. 3-19(17)

Abstract:

Accurate carrier detection and pre-natal diagnosis in haemophilia A and B and in von Willebrand's disease (VWD) can be achieved by genetic analysis. The spectrum of mutations responsible for these three disorders is described. Methods for linkage analysis using intra genic diallelic and multiallelic factor VIII and IX gene polymorphisms are mentioned, and situations where their use in carrier detection is inappropriate or fails are discussed. Linkage analysis for examination of von Willebrand factor gene inheritance in families with VWD is also described. Screening for the factor VIII gene inversion in patients with severe haemo philia A and the use of the factor VIII binding assay as a discriminant test in patients with possible mild haemophilia A or VWD are described. Point mutation screening methods AMD, CSGE, DGGE, SSCP and UHG analysis are also detailed. The variety of possible analyses available to genetically diagnose haemophilia A, B and VWD is explored.

Keywords: Haemophilia; von Willebrand's disease; polymorphism; mutation; carrier analysis

Document Type: Research article

DOI: 10.1046/j.1365-2257.1998.00115.x

Affiliations: 1: Division of Molecular and Genetic Medicine, Royal Hallamshire Hospital, Sheffield, UK

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Laboratory methods for the genetic diagnosis of bleeding disorders