Article
Molecular defects in haemophilia B: detection by direct restriction enzyme analysis.
British journal of haematology - 1 Sept 1991
Chan V V, Yip B, Tong T M, Chan T P, Lau K, Yam I, Chan T K
Abstract excerpt
The common restriction fragment length polymorphisms (RFLPs) associated with the FIX gene: 5' BamH I, Dde I, BamH I (2), Taq I and 3' Hha I were absent or of low incidence in Southern Chinese and are therefore not useful for linkage analysis. No deletion was detected amongst seven consecutive unrelated haemophilia B patients, but one had an insertion of a 15 kb Pvu II fragment containing exon d. Using an...
Topics
- Blotting, Southern
- Chromosome Deletion
- Female
- Genetic Carrier Screening
- Hemophilia B
- Humans
- Male
- Mutagenesis, Insertional
- Mutation
- Pedigree
- Polymerase Chain Reaction