A deletion/insertion leading to the generation of a direct repeat as a result of slipped mispairing and intragenic recombination in the factor VIII gene

Hum Genet. 1999 May;104(5):435-7. doi: 10.1007/s004390050981.


A deletion/insertion in the human factor VIII gene was found in a patient with severe hemophilia A; 316 bp were removed, viz., those enclosing part of intron 15 and the first 7 bp of exon 16. In addition to the deletion, 6 bp were added to the deletion breakpoints; this resulted in the duplication of an existing 13-bp unit. Thus, an overlapping 13-bp direct repeat was generated at the deletion junction. Moreover, the deleted fragment itself was flanked by two homologous 6-bp sequences, one unit being lost by the deletion. A combination of slipped mispairing during replication and an intragenic recombination is discussed to describe this deletion/insertion process.

MeSH terms

  • Base Pairing
  • Base Sequence
  • DNA / blood
  • DNA / genetics
  • DNA Transposable Elements*
  • Deoxyribonucleases, Type II Site-Specific
  • Exons
  • Factor VIII / genetics*
  • Hemophilia A / genetics*
  • Humans
  • Introns
  • Lymphocytes
  • Nucleic Acid Conformation
  • Polymerase Chain Reaction
  • Recombination, Genetic*
  • Repetitive Sequences, Nucleic Acid
  • Restriction Mapping
  • Sequence Deletion*


  • DNA Transposable Elements
  • Factor VIII
  • DNA
  • Deoxyribonucleases, Type II Site-Specific
  • TCGA-specific type II deoxyribonucleases