Article
Genotypic confirmation from the original dried blood specimens in a neonatal hemoglobinopathy screening program.
Pediatric research - 1 Mar 1992
Descartes M, Huang Y, Zhang Y H, McCabe L L, Gibbs R, Therrell B L, McCabe E R
Abstract excerpt
Dried blood spots are used for newborn screening because of ease of sample collection, handling, and shipment. DNA is stable and accessible in the filter paper matrix. Genotypic confirmation using initial specimens is demonstrated for a regional screening program. Seventy-five blinded samples underwent DNA analysis after Hb electrophoresis. DNA was microextracted from a 1/2-inch semicircle (25 microL whole blood...
Topics
- Alleles
- Base Sequence
- Blood Specimen Collection
- DNA Mutational Analysis
- Genotype
- Hemoglobinopathies
- Hemoglobins, Abnormal
- Humans
- Infant, Newborn
- Mass Screening
- Molecular Sequence Data