Carrier detection in haemophilia A by direct analysis of factor VIII gene lesions.
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.
Millar
D S
DS
Molecular Genetics Section, Thrombosis Research Institute, London, UK.
Green
P J
PJ
Zoll
B
B
Kakkar
V V
VV
Cooper
D N
DN
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
D003062:Codon; D005169:Factor VIII; D004247:DNA