title: Characterization of the breakpoint of a 3.5-kb deletion of the beta-globin gene.
abstract: The precise extent and breakpoints of a deletion of the beta-globin gene in a Thai patient have been determined using direct sequencing of a PCR product. This lesion is not detectable by current screening methods using PCR to analyze the beta-globin genes and is, therefore, a potential source of error in the diagnosis and prenatal detection of beta-thalassemia.
authors.affiliation: Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Headington, Oxford, England.
authors.forename: J R
authors.initials: JR
authors.lastname: Lynch
authors.forename: J M
authors.initials: JM
authors.lastname: Brown
authors.forename: S
authors.initials: S
authors.lastname: Best
authors.forename: M W
authors.initials: MW
authors.lastname: Jennings
authors.forename: D J
authors.initials: DJ
authors.lastname: Weatherall
mesh_terms: D001483:Base Sequence; D002872:Chromosome Deletion; D004247:DNA; D005914:Globins / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D013789:Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins; D004247:DNA