Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene

Hum Genet. 1989 Mar;81(4):335-8. doi: 10.1007/BF00283686.


Polymerase chain reaction amplification and nucleotide sequencing were used to identify the molecular defect in a Japanese patient with mild hemophilia A and an alteration of a TaqI site in exon 26 of the factor VIII gene. The mutation was a G-to-T transversion in codon 2326 of the factor VIII gene resulting in an Arg-to-Leu substitution at amino acid 2307 of the protein. The mutation, which is not of the common CG-to-TG type, is at the same codon in which both nonsense and a different missense (Arg to Gln) have previously been observed.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Arginine / genetics
  • Base Sequence
  • Codon*
  • DNA Probes
  • Exons
  • Factor VIII / genetics*
  • Female
  • Hemophilia A / genetics*
  • Humans
  • Leucine / genetics
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • RNA, Messenger*


  • Codon
  • DNA Probes
  • RNA, Messenger
  • Factor VIII
  • Arginine
  • Leucine