title: Characterization of beta-globin mRNA in the beta0 thalassemias.
abstract: A number of cases of beta0 thalassemia have been examined for the presence or absence of beta-globin mRNA. Total RNA extracted from peripheral blood was hybridized to purified complementary DNA specific for beta-globin mRNA, and to beta-cDNA probes specific for the 5' and 3' noncoding regions of beta-globin mRNA. Three clear-cut categories of beta0 thalassemia were identified. The first type had no detectable beta-globin mRNA. A second typed had beta-globin mRNA sequences which hybridized incompletely to the cDNA probes and probably represented mRNAs with grossly altered structures. A third type appeared to have essentially intact, though untranslatable, beta-globin mRNA. Depurination products from 5' and 3' beta-cDNAs synthesized from this latter mRNA were identical to those from normal beta-globin mRNA, but the relative yields were different, suggesting a possible defect near the initiation codon.
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000096:biosynthesis; D003851:Deoxyribonucleases / Q000378:metabolism; D005914:Globins / Q000096:biosynthesis*; D006720:Homozygote; D006801:Humans; D009693:Nucleic Acid Hybridization; D012333:RNA, Messenger / Q000097:blood*; D012156:Reticulocytes / Q000032:analysis; D013789:Thalassemia / Q000097:blood* / Q000235:genetics
chemical_list: D012333:RNA, Messenger; D005914:Globins; D004247:DNA; D003851:Deoxyribonucleases