title: Molecular genetic diagnosis of sickle cell disease using dried blood specimens on blotters used for newborn screening.
abstract: The protein-based technologies used to screen newborns for sickle cell disease require confirmation with a liquid blood specimen. We have developed a strategy for rapid and specific genotypic diagnosis using DNA extracted from a dried blood spot on the filter paper blotter used to screen newborns. DNA could be microextracted from a specimen as small as a 1/8 inch diameter punched disc representing the dried equivalent of approximately 3 microliters of whole blood. We utilized the DNA from a 1/4 inch diameter specimen (12 microliters equivalent) for polymerase chain reaction amplification of the beta-globin region spanning the sickle cell mutation with detection by allele-specific oligonucleotide probes. Molecular confirmation of genotype from the original blotter would reduce the personnel costs associated with obtaining follow-up liquid blood specimens and would provide information to the family in a more timely and less equivocal manner.
authors.affiliation: Department of Microbiology, State University of New York, Buffalo 14214.
authors.forename: D C
authors.initials: DC
authors.lastname: Jinks
authors.forename: M
authors.initials: M
authors.lastname: Minter
authors.forename: D A
authors.initials: DA
authors.lastname: Tarver
authors.forename: M
authors.initials: M
authors.lastname: Vanderford
authors.forename: J F
authors.initials: JF
authors.lastname: Hejtmancik
authors.forename: E R
authors.initials: ER
authors.lastname: McCabe
mesh_terms: D000755:Anemia, Sickle Cell / Q000175:diagnosis / Q000235:genetics*; D001800:Blood Specimen Collection; D015139:Blotting, Southern; D004247:DNA / Q000032:analysis*; D005820:Genetic Testing / Q000379:methods*; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn
chemical_list: D004247:DNA