Article
The molecular genetics of haemophilia A: screening for point mutations in the factor VIII gene using the restriction enzyme TaqI.
Human genetics - 1 Sept 1991
Millar D S, Zoll B, Martinowitz U, Kakkar V V, Cooper D N
Abstract excerpt
A combination of Southern blotting and the analysis of polymerase chain reaction (PCR) amplified DNA fragments was used to screen the factor VIII genes of 527 haemophilia A patients for point mutations within TaqI restriction sites. Since this "directed search" strategy yielded only four gene lesions, it was concluded that its efficacy is less than that originally predicted. One novel point mutation was however...
Topics
- Base Sequence
- Blotting, Southern
- DNA Mutational Analysis
- Deoxyribonucleases, Type II Site-Specific
- Deoxyribonucleotides
- Factor VIII
- Hemophilia A
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction