Novel FⅧ gene mutants inducing haemophilia A and uses thereof

摘要

PURPOSE: A novel F VIII gene mutant causing hemophilia A is provided to diagnose hemophilia A and detect carrier of hemophilia A. CONSTITUTION: A novel F VIII gene mutant contains a base sequence of sequence number 1. A deletion mutant is prepared by deletion of 5953th base, C. A deletion mutant is prepared by deletion of 207th base and 208th base, GT. A deletion mutant is prepared by deletion of 5860th-5865th bases, GCTCAG. A deletion mutant is prepared by deletion of 5471th base, A. A missense mutant is prepared by substitution of 5825th base, G with A. A method for detecting the F VIII gene comprises: a step of isolating genome DNA from a patient who possibly has hemophilia A; and a step of amplifying the genome DNA.