Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A.

摘要: Haemophilia A is an X-linked bleeding disorder caused by reduced or absent FVIII (FVIII) protein mutations in the gene. We have used Southern blotting and chemical mismatch analysis (CMA) to identify causing haemophilia 59 local referred patients carriers of A. blot 87 families with : C < 5% identified 31 as positive for intron 22 inversion. Analysis 19 inversion-negative a further nine mild moderate CMA resulted identification heterogeneous spectrum gene comprising 21 single base-pair substitutions deletions. Seventeen are missense, two nonsense, splice-site mutations. Two were found compound on X chromosome. Six point six deletions not been reported previously mutation database. Unusually, missense mutation, well deletion mutations, was be associated exon-skipping events.