Article
Prenatal exclusion of haemophilia A and carrier testing by direct detection of a disease lesion.
Prenatal diagnosis - 1 Nov 1992
Schwartz M, Cooper D N, Millar D S, Kakkar V V, Scheibel E
Abstract excerpt
A novel mutation was detected in the Factor VIII gene of a sporadic case of severe haemophilia A. The lesion, a CGA-->TGA transition, converts Arg 795 to Term and adequately accounts for the severe phenotype observed. PCR/direct sequencing was used to confirm the carrier status in the mother. Exclusion of haemophilia A in an at-risk pregnancy was then achieved by demonstration of the absence of this lesion in...
Topics
- Base Sequence
- Chorionic Villi Sampling
- Factor VIII
- Female
- Genetic Carrier Screening
- Hemophilia A
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length