Most common mutation in haemophilia is:: (A) Intron 1 inversion, (B) Intron 22, (C) 619 bp deletion, (D) 3.7 bp deletion
Answer is B. Genetic abnormalities in haemophilia : Inversions: Intron 22 inversion, Intron 1 inversion Point mutations: Missense mutation, nonsense mutation, frameshift mutation Deletion of pa or whole of gene Inseion of repetitive sequences Splicing errors affecting production of mRNA Hemophilia A(factor 8 deficiency) -x linked recessive trait, affects mainly males and homozygous females Hemophilia B - x linked disorder caused by mutations in coagulation Factor 9