Article
Simultaneous detection of delta F508, G542X, N1303K, G551D, and 1717-1G-->A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay.
International journal of clinical & laboratory research - 1 Jan 1995
Sangiuolo F, Maceratesi P, Mesoraca A, Botta A, Cavicchini A, Novelli G, Dallapiccola B
Abstract excerpt
We describe the use of a polymerase chain reaction in conjunction with a DNA enzyme immunoassay for the simultaneous detection of five common cystic fibrosis mutations. The method is specific, sensitive, rapid, and proved effective in Guthrie card-based screening of cystic fibrosis mutations.
Topics
- Alleles
- Base Sequence
- Cystic Fibrosis
- DNA Mutational Analysis
- Genetic Carrier Screening
- Genetic Testing
- Genotype
- Humans
- Immunoenzyme Techniques
- Infant, Newborn
- Molecular Sequence Data
- Oligonucleotide Probes
- Polymerase Chain Reaction
- Reproducibility of Results
- Sensitivity and Specificity