Detection of Mutations in Hemophilia A Patients by Chemical Cleavage of Mismatch Method

  • Naushin H. Waseem
  • Richard Bagnall
  • Peter M. Green
  • Francesco Giannelli
Part of the Methods in Molecular Medicine™ book series (MIMM, volume 31)


Hemophilia A is an X-linked disorder that leads to a defect in blood coagulation. This is caused by mutations in the factor VIII gene, which results in its activity being reduced or abolished in the blood-clotting cascade. The factor VIII gene is 186 kb long with 26 exons, varying from 69 bp (exon 5) to 3106 bp (exon 14) (1). The factor VIII mRNA is 9028 bases in length with a 7053 nucleotides long coding region (2).


Polymerase Chain Reaction Product Factor Viii Primary Polymerase Chain Reaction Streptavidin Coated Magnetic Bead Streptavidin Bead 
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Copyright information

© Humana Press Inc. 1999

Authors and Affiliations

  • Naushin H. Waseem
    • 1
  • Richard Bagnall
    • 1
  • Peter M. Green
    • 1
  • Francesco Giannelli
    • 1
  1. 1.Paediatric Research Unit, Division of Medical and Molecular Genetics, Prince Philip Research Laboratories, United Medical and Dental Schools of Guy’s and St. Thomas’s Hospitals, Guy’s HospitalUniversity of LondonLondonUK

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