The molecular basis of hemophilia A in man

The study of mutations in the factor VIII gene that cause hemophilia A has provided new insights into the variety and nature of mutations in man. These new insights are the relative susceptibility of CpG dinucleotides to mutation and the observation of insertions of LINE repetitive elements via retrotransposition, Using DNA polymorphisms for indirect detection of defective factor VIII genes, accurate prenatal diagnosis and carrier detection can now be performed in most families with hemophilia A.