Journal article

Detection of carriers of haemophilia A: use of bioassays and restriction fragment length polymorphisms (RFLP).

Z Rudzki, SE Rodgers, LJ Sheffield, JV Lloyd

Internal Medicine Journal | Published : 1996

Abstract

BACKGROUND: Haemophilia A is a sex-linked bleeding disorder carried by unaffected females. Currently, the two main methods used for the determination of carrier status in women from families with haemophilia A are bioassays and DNA-based assays using restriction fragment length polymorphisms (RFLP). AIM: The aim of this paper was to assess the current usefulness of these two methods. METHODS: Bioassays measured factor VIII coagulation activity by a two-stage coagulation assay and von Willebrand antigen by immunoelectrophoresis. RFLP were determined with two intragenic probes (p114 and p486) and two linked probes (St14 and DX13). Data were analysed using a Bayesian analysis to allow for all p..

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