Article
The application of PCR amplification and the polymorphic marker KM.19 to dried blood spots: comparison with deletion 508 for the confirmation of the neonatal screening test for cystic fibrosis.
Pediatric pulmonology. Supplement - 1 Jan 1991
Laroche D, Travert G
Abstract excerpt
Cystic fibrosis (CF) screening by measurement of immunoreactive trypsin (IRT) lacks specificity: only 9% of hypertrypsinemic neonates have CF. We have studied retrospectively 114 hypertrypsinemic samples (including 37 CF) for KM.19 polymorphic DNA marker and made risk calculations. If the neonate...
Topics
- Blood Specimen Collection
- Chromosome Deletion
- Cystic Fibrosis
- Genetic Markers
- Genetic Testing
- Genotype
- Humans
- Infant, Newborn
- Neonatal Screening
- Polymerase Chain Reaction
- Prospective Studies