A Novel PCR—Generated DNA Probe used for Identification of the Most Common Molecular Defects Causing Severe Haemophilia A

Abstract

ABSTRACTNumerous mutations in the Factor VIII gene leading to haemophilia A have been identified, including point mutations, deletions, insertions and rearrangements. In about half of the patients with severe disease (25% of all cases) large DNA inversions are present. These rearrangements can be detected by Southern blot assay. Here we present a novel PCR—generated DNA probe for detecting the inversions in severe haemophilia A patients. The probe shows high homology to the original probe described elsewhere as well as to the relevant DNA sequence in the intron 22. of the Factor VIII gene. No cross—hybridisation between the probe and DNA of nonhuman origin was detected.