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Carrier detection in haemophilia A by direct analysis of factor VIII gene lesions
D S Millar1, P J Green, B Zoll
1Molecular Genetics Section, Thrombosis Research Institute, London, UK.
Human Genetics
|May 1, 1991
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.