Carrier detection in haemophilia A by direct analysis of factor VIII gene lesions

Hum Genet. 1991 May;87(1):99-100. doi: 10.1007/BF01213104.

Abstract

CGA----TGA (Arg----Term) transitions in the factor VIII gene causing severe haemophilia A were detected in two patients at codons 336 and 427 using a combination of oligonucleotide discrimination hybridization and DNA sequencing. Carrier detection analysis was then performed by polymerase chain reaction/direct sequencing of the appropriate region of the gene in female relatives of the probands.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Codon
  • DNA / genetics*
  • Electrophoresis, Agar Gel
  • Factor VIII / genetics*
  • Female
  • Genetic Carrier Screening*
  • Hemophilia A / diagnosis
  • Hemophilia A / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Polymerase Chain Reaction

Substances

  • Codon
  • Factor VIII
  • DNA