title: High frequencies of a rearrangement (+ATA; -T) at -530 to the beta-globin gene in different populations indicate the absence of a correlation with a silent beta-thalassemia determinant.
abstract: DNA samples from numerous subjects of different racial and ethnic backgrounds, with or without various hemoglobinopathies (classical beta-thalassemia; silent beta-thalassemia, Hb E, sickle cell anemia), were studied for a rearrangement (+ATA; -T) at nucleotide -530 in the 5' flanking region of the beta-globin gene using amplified DNA and 32P-labeled synthetic oligonucleotide probes. The data show that this unusual sequence is a common feature among East-Asians and Blacks (particularly SS patients), and is not associated with mild thalassemic features typical for the silent form of beta-thalassemia, as has been suggested (5).
authors.affiliation: Department of Cell and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
authors.forename: S C
authors.initials: SC
authors.lastname: Wong
authors.forename: T A
authors.initials: TA
authors.lastname: Stoming
authors.forename: G D
authors.initials: GD
authors.lastname: Efremov
authors.forename: T H
authors.initials: TH
authors.lastname: Huisman
mesh_terms: D044466:Asian People / Q000235:genetics; D044383:Black People / Q000235:genetics; D015342:DNA Probes / Q000032:analysis; D005787:Gene Frequency; D015321:Gene Rearrangement; D005845:Georgia; D005914:Globins / Q000235:genetics*; D006453:Hemoglobinopathies / Q000235:genetics; D006801:Humans; D008296:Malaysia; D011401:Promoter Regions, Genetic; D013789:Thalassemia / Q000097:blood / Q000235:genetics*; D001741:Black or African American
chemical_list: D015342:DNA Probes; D005914:Globins