Illegitimate recombination produced a duplication within the FVIII gene in a patient with mild hemophilia A

Genomics. 1990 May;7(1):115-8. doi: 10.1016/0888-7543(90)90526-z.


We have characterized an unusual duplication of exon 13 within the factor VIII gene in a patient with a mild form of hemophilia A. This duplication was the result of a nonhomologous breakage and reunion event of two misaligned wild-type chromosomes. Sequence analysis of the breakpoint region revealed the presence of AT-rich sequences and possible topoisomerase I sites, whose involvement in several cases of illegitimate recombination has been postulated.

MeSH terms

  • Base Sequence
  • Cloning, Molecular
  • DNA Topoisomerases, Type I / metabolism
  • Exons
  • Factor VIII / genetics*
  • Genes
  • Hemophilia A / genetics*
  • Humans
  • Molecular Sequence Data
  • Multigene Family*
  • Recombination, Genetic*
  • Restriction Mapping


  • Factor VIII
  • DNA Topoisomerases, Type I

Associated data

  • GENBANK/M34731