Article
Molecular temporal bone pathology: III. Genotyping of the deltaF508 deletion in the DNA of patients with cystic fibrosis.
The Laryngoscope - 1 Aug 1998
Wackym P A, Kerner M M, Grody W W
Abstract excerpt
Genomic DNA from a single celloidin-embedded archival temporal bone section was used to identify a specific genetic mutation. The polymerase chain reaction was used to amplify and detect the deltaF508 deletion, a common molecular genetic defect in cystic fibrosis. This mutation, present in more than 70% of white patients and carriers with cystic fibrosis, results in the deletion of codon 508, which specifies the...
Topics
- Alleles
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- DNA
- Gene Deletion
- Genetic Carrier Screening
- Genotype
- Humans
- Mutation
- Polymerase Chain Reaction
- Temporal Bone