Article
Cystic fibrosis genotyping by direct PCR analysis of Guthrie blood spots.
PCR methods and applications - 1 Nov 1992
Raskin S, Phillips J A, Kaplan G, McClure M, Vnencak-Jones C
Abstract excerpt
In the United States the most common cystic fibrosis (CF) alleles known are F508, G551D, G542X, R553X, and N1303K. These mutations comprise approximately 85% of U.S. CF alleles, and their detection along with analysis of XV-2C and KM-19 restriction fragment length polymorphisms (RFLPs) can enable the determination of CF status. To facilitate studies for determining CF carrier status, we developed methods to...
Topics
- Alleles
- Blood Specimen Collection
- Cystic Fibrosis
- DNA Mutational Analysis
- Electrophoresis, Agar Gel
- Electrophoresis, Polyacrylamide Gel
- Gene Frequency
- Genetic Markers
- Genotype
- Humans
- Infant, Newborn