Demonstration of non-functional beta-globin mRNA in homozygous beta (0) thalassemia.
In two Chinese patients with homozygous beta(0)-thalassemia, messenger RNAs from peripheral blood reticulocytes and the bone marrow failed to direct beta-chain synthesis in vivo and in vitro in a cell-free system. Molecular hybridization showed that the beta cDNA annealed to the RNAs at almost the same rate as the alpha and gamma cDNA. The beta cDNA-RNA hydrid formed efficiently and was thermally stable, whereas hybrids between gamma and beta sequences formed slowly and denatured at a significantly lower temperature. Thus, we conclude that the beta cDNA was annealing to beta-globin sequences in these two patients, and that nonfunctional beta-globin mRNA was present. Similar results were obtained in the reticulocyte RNA from an Italian patient with homozygous beta(0)-thalassemia.
D001853:Bone Marrow / Q000378:metabolism; D001854:Bone Marrow Cells; D002681:China / Q000208:ethnology; D005914:Globins / Q000096:biosynthesis*; D006720:Homozygote; D009691:Nucleic Acid Denaturation; D009693:Nucleic Acid Hybridization; D014176:Protein Biosynthesis; D012333:RNA, Messenger / Q000097:blood / Q000378:metabolism*; D012156:Reticulocytes / Q000378:metabolism; D013789:Thalassemia / Q000097:blood / Q000378:metabolism*
D012333:RNA, Messenger; D005914:Globins