Article
A simple assay for the screening of the cystic fibrosis allele in carriers of the Phe508 deletion mutation.
Mayo Clinic proceedings - 1 Aug 1990
Chong G L, Thibodeau S N
Abstract excerpt
With the recent identification of the cystic fibrosis gene and the elucidation of one of the major mutations responsible for the disease, it is now possible to screen directly for carriers of this particular mutation at the DNA level. The mutation that accounts for approximately 70% of the affect...
Topics
- Alleles
- Chromosome Deletion
- Cystic Fibrosis
- Electrophoresis, Polyacrylamide Gel
- Genetic Carrier Screening
- Humans
- Mass Screening
- Mutation
- Phenylalanine
- Polymerase Chain Reaction