Article
Methods for analysis of multiple cystic fibrosis mutations.
Human genetics - 1 Sept 1991
Ng I S, Pace R, Richard M V, Kobayashi K, Kerem B, Tsui L C, Beaudet A L
Abstract excerpt
A large number of mutations causing cystic fibrosis (CF) have been reported. In an attempt to improve methods for genetic diagnosis and for heterozygote screening, we evaluated methods for efficient analysis of the delta F508, G542X, G551D, R553X, and N1303K mutations. We found that multiple mutations can be analyzed simultaneously using hybridization with allele-specific oligonucleotides. Alternatively all of...
Topics
- Base Sequence
- Cystic Fibrosis
- DNA
- DNA Mutational Analysis
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction