title: Genetic screening of newborns for sickle cell disease: correlation of DNA analysis with hemoglobin electrophoresis.
abstract: Although DNA analysis based on the polymerase chain reaction (PCR) offers potential advantages for screening newborns for sickle cell disease, few data are available concerning the reliability of PCR-based tests for such screening. We describe a protocol for detecting the A, S, and C alleles of the beta-globin gene in dried blood from phenylketonuria screening cards. This method is based on PCR and detection with allele-specific oligonucleotide probes. Results of a blind comparison of PCR analysis of the dried blood with hemoglobin electrophoresis of whole-blood samples agreed for 80 of 81 samples. The single discrepancy is probably not attributable to a failure of the PCR method, but rather to limitations of the electrophoresis method. The PCR method should be a highly accurate means of detecting beta-globin alleles in routine genetic screening with dried blood already collected for (e.g.) phenylketonuria screening.
authors.affiliation: Department of Laboratory Medicine SB-10, University of Washington, Seattle 98195.
authors.forename: K J
authors.initials: KJ
authors.lastname: Skogerboe
authors.forename: S F
authors.initials: SF
authors.lastname: West
authors.forename: M D
authors.initials: MD
authors.lastname: Murillo
authors.forename: M W
authors.initials: MW
authors.lastname: Glass
authors.forename: S
authors.initials: S
authors.lastname: Shaunak
authors.forename: J F
authors.initials: JF
authors.lastname: Tait
mesh_terms: D000483:Alleles; D000755:Anemia, Sickle Cell / Q000097:blood* / Q000235:genetics; D004247:DNA / Q000097:blood*; D004586:Electrophoresis / Q000379:methods; D005312:Fetal Blood; D005914:Globins / Q000235:genetics; D006454:Hemoglobins / Q000032:analysis*; D006801:Humans; D007231:Infant, Newborn; D016133:Polymerase Chain Reaction
chemical_list: D006454:Hemoglobins; D005914:Globins; D004247:DNA