Factor IXMadrid 2: a deletion/insertion in factor IX gene which abolishes the sequence of the donor junction at the exon IV-intron d splice site

Am J Hum Genet. 1992 Feb;50(2):434-7.


DNA from a patient with severe hemophilia B was evaluated by RFLP analysis, producing results which suggested the existence of a partial deletion within the factor IX gene. The deletion was further localized and characterized by PCR amplification and sequencing. The altered allele has a 4,442-bp deletion which removes both the donor splice site located at the 5' end of intron d and the two last coding nucleotides located at the 3' end of exon IV in the normal factor IX gene; this fragment has been replaced by a 47-bp sequence from the normal factor IX gene, although this fragment has been inserted in inverted orientation. Two homologous sequences have been discovered at the ends of the deleted DNA fragment.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Amino Acid Sequence
  • Base Sequence
  • Blotting, Southern
  • Chromosome Deletion*
  • DNA / genetics
  • Exons*
  • Factor IX / genetics*
  • Humans
  • Introns*
  • Male
  • Molecular Sequence Data
  • Mutation
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • RNA Splicing*


  • factor IX Madrid
  • Factor IX
  • DNA

Associated data

  • GENBANK/M86934
  • GENBANK/S37423
  • GENBANK/S78934
  • GENBANK/S79305