A-793 G to A transition in the factor IX gene promoter is polymorphic in the Caucasian population

Br J Haematol. 1996 Feb;92(2):501-3. doi: 10.1046/j.1365-2141.1996.d01-1490.x.


We report the incidence of a prevalent polymorphism at position -703 in the promoter region of the factor IX gene in caucasian individuals. This DNA change was originally reported as one of two changes in the factor IX gene of a severely affected haemophilia B patient from Japan. We confirm the neutral nature of this change and demonstrate that, despite showing linkage disequilibrium with the previously reported Msel RFLP < 100 bp distant, the use of these two loci together in a carrier screening strategy significantly increases the level of informativity over the achieved using either polymorphism alone.

MeSH terms

  • Base Sequence
  • DNA Primers / genetics
  • Factor IX / genetics*
  • Female
  • Genotype
  • Hemophilia B / genetics*
  • Heterozygote
  • Humans
  • Male
  • Molecular Sequence Data
  • Oligonucleotide Probes
  • Polymorphism, Genetic*
  • Promoter Regions, Genetic*
  • White People


  • DNA Primers
  • Oligonucleotide Probes
  • Factor IX