title: Carrier detection in haemophilia A by direct analysis of factor VIII gene lesions.
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.
authors.affiliation: Molecular Genetics Section, Thrombosis Research Institute, London, UK.
authors.forename: D S
authors.initials: DS
authors.lastname: Millar
authors.forename: P J
authors.initials: PJ
authors.lastname: Green
authors.forename: B
authors.initials: B
authors.lastname: Zoll
authors.forename: V V
authors.initials: VV
authors.lastname: Kakkar
authors.forename: D N
authors.initials: DN
authors.lastname: Cooper
mesh_terms: D001483:Base Sequence; D003062:Codon; D004247:DNA / Q000235:genetics*; D004587:Electrophoresis, Agar Gel; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006467:Hemophilia A / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D003062:Codon; D005169:Factor VIII; D004247:DNA