Characterization of beta-globin mRNA in the beta0 thalassemias.

Journal article

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.

Authors: Old, J; Proudfoot, N; Wood, W; Longley, J; Clegg, J

• Journal: Cell
• Volume: 14
• Issue: 2
• Pages: 289-298
• Publication date: 1978-06-01
• DOI: 10.1016/0092-8674(78)90115-0
• EISSN: 1097-4172
• ISSN: 0092-8674
• Language: English
• Keywords: Base Sequence; Nucleic Acid Hybridization; Adult; Child; Child, Preschool; Homozygote; RNA, Messenger; Globins; Deoxyribonucleases; DNA; Reticulocytes; Adolescent; Thalassemia; Humans