Specific analysis of the intron 22 XbaI polymorphism of the human factor VIII gene using long-distance PCR

Br J Haematol. 1999 Dec;107(3):566-8. doi: 10.1046/j.1365-2141.1999.01731.x.


A rapid, non-radioactive, PCR-based method to genotype the XbaI restriction fragment length polymorphism of the human factor VIII gene is described. The method uses long-distance PCR followed by XbaI restriction digestion and agarose gel electrophoresis. The 6.6 kb amplification product includes a constant XbaI site, which provides a digestion control. The specificity of the method was challenged by a blind experiment with 16 genomic DNA samples previously genotyped by Southern blot analysis: a perfect correlation was obtained between genotypes determined using Southern blot and PCR.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blotting, Southern
  • Electrophoresis, Agar Gel
  • Factor VIII / genetics*
  • Humans
  • Introns / genetics*
  • Polymerase Chain Reaction / methods
  • Polymorphism, Genetic
  • Polymorphism, Restriction Fragment Length


  • Factor VIII