NOVEL FVIII GENE MUTANTS INDUCING HAEMOPHILIA A AND USES THEREOF

摘要

PURPOSE: Eight FVIII gene mutants are provided to diagnose haemophilia A and carriers. CONSTITUTION: An FVIII gene mutant is prepared by missense mutation from 6406th base, G to A on a natural FVIII gene having a base of sequence number 1. The mutant is used for diagnosing haemophilia A. A method for detecting the FVIII gene mutant comprises: a step of isolating genome DNA from a patient suspected of having haemophilia A; a step of amplifying the gene of the mutant site using the genome DNA as a template; and a step of identifying the amplified gene. A composition for diagnosing haemophilia A contains a primer or probe which specifically binds to the mutant.