Article
Fluorescence-based, multiplex allele-specific PCR (MASPCR) detection of the delta F508 deletion in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Molecular and cellular probes - 1 Aug 1992
Fortina P, Conant R, Parrella T, Rappaport E, Scanlin T, Schwartz E, Robertson J M, Surrey S
Abstract excerpt
Cystic fibrosis (CF) is a common genetic disorder in Caucasians, and in some populations 70% of cases are associated with a 3 base pair (bp) deletion (delta F508) in the CFTR gene. We have implemented a fluorescence-based, multiplex allele-specific polymerase chain reaction (MASPCR) assay for del...
Topics
- Alleles
- Base Sequence
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Fluorescence
- Genes, Regulator
- Humans
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction