Article
Direct gene diagnosis of cystic fibrosis by allele-specific polymerase chain reactions.
Molecular biology & medicine - 1 Aug 1990
Wagner M, Schloesser M, Reiss J
Abstract excerpt
Cloning of the cystic fibrosis gene and the identification of the predominant disease-causing mutation did not only help in the understanding of this frequent disease, but was immediately followed by applications in direct gene diagnosis. We describe a method for the detection of the so-called delta F508 deletion, which accounts for 70% of the mutations: a polymerase chain reaction with two different combinations...
Topics
- Alleles
- Chromosome Deletion
- Cystic Fibrosis
- DNA-Directed DNA Polymerase
- Gene Frequency
- Genetic Carrier Screening
- Germany, West
- Humans
- Oligonucleotide Probes
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length