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Novel FⅧ gene mutants inducing haemophilia A and uses thereof
Novel FⅧ gene mutants inducing haemophilia A and uses thereof
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机译:诱导A型血友病的新型FⅧ基因突变体及其用途
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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.
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