Factor VIII gene deletions in haemophilia A patients in Czechoslovakia

Br J Haematol. 1992 Jun;81(2):271-6. doi: 10.1111/j.1365-2141.1992.tb08219.x.

Abstract

Genomic DNA from 90 Czechoslovak haemophilia A patients from 81 pedigrees was analysed by Southern blotting and hybridization with factor VIII cDNA probes. Three partial deletions of the factor VIII gene were identified and characterized: a 4.8 kilobase (kb) deletion eliminating exon 10 in one patient with severe haemophilia A without inhibitor, a 6.1 kb deletion eliminating the 3' part of intron 13 and the 5' part of exon 14 in two related severe haemophiliacs, but only one of them produced inhibitor, and a 4.6 kb deletion eliminating the 3' part of intron 13 and the 5' part of exon 14 in a severe haemophiliac with high-titre inhibitor. Besides these three deletions, three different restriction site variants without apparent loss of DNA sequence were found.

MeSH terms

  • Blotting, Southern
  • Chromosome Deletion*
  • Chromosome Mapping
  • DNA / analysis
  • DNA Probes
  • Exons
  • Factor VIII / genetics*
  • Hemophilia A / genetics*
  • Humans
  • Introns
  • Mutation
  • Nucleic Acid Hybridization

Substances

  • DNA Probes
  • Factor VIII
  • DNA