Article
Frequency of the delta Phe508 mutation and correlation with XV.2c/KM-19 haplotypes in an American population of cystic fibrosis patients: results of a collaborative study.
Clinical chemistry - 1 Oct 1990
Highsmith W E, Chong G L, Orr H T, Perry T R, Schald D, Farber R, Wagner K, Knowles M R, Warwick W J, Silverman L M
Abstract excerpt
The cystic fibrosis (CF) gene has been recently cloned, and a deletion of 3 basepairs (bp) of DNA was found on most of the CF chromosomes. This deletion leads to the synthesis of a protein that lacks a phenylalanine residue at position 508. Using two polymerase chain reaction protocols to study the frequency of this mutation in a series of 192 CF patients, we found the mutation on 72% of affected chromosomes. We...
Topics
- Base Sequence
- Chromosome Deletion
- Cystic Fibrosis
- Genetic Carrier Screening
- Genotype
- Haplotypes
- Humans
- Molecular Sequence Data
- Mutation
- Nucleic Acid Probes