Moderately severe hemophilia A resulting from Glu----Gly substitution in exon 7 of the factor VIII gene

Am J Hum Genet. 1988 Jun;42(6):867-71.


To define the molecular basis of a TaqI site alteration in the factor VIII gene of a patient with moderately severe hemophilia A, we used a combination of genomic amplification followed by direct sequencing and oligonucleotide hybridization, to demonstrate an A-to-G substitution in exon 7 (codon 291) of this gene. This mutation generates a Gly in place of Glu at amino acid 272 of the mature factor VIII protein. The mutation arose de novo in a germ cell of the patient's mother.

Publication types

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

MeSH terms

  • Adolescent
  • DNA Restriction Enzymes
  • Deoxyribonucleases, Type II Site-Specific*
  • Exons*
  • Factor VIII / genetics*
  • Female
  • Gene Amplification
  • Glutamine
  • Glycine
  • Hemophilia A / genetics*
  • Humans
  • Male
  • Mutation*
  • Nucleic Acid Hybridization
  • Pedigree


  • Glutamine
  • Factor VIII
  • DNA Restriction Enzymes
  • Deoxyribonucleases, Type II Site-Specific
  • TCGA-specific type II deoxyribonucleases
  • Glycine

Associated data

  • GENBANK/M14113