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Research Article Free access | 10.1172/JCI110323

beta zero thalassemia in Sardinia is caused by a nonsense mutation.

R F Trecartin, S A Liebhaber, J C Chang, K Y Lee, Y W Kan, M Furbetta, A Angius, and A Cao

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Published October 1, 1981 - More info

Published in Volume 68, Issue 4 on October 1, 1981
J Clin Invest. 1981;68(4):1012–1017. https://doi.org/10.1172/JCI110323.
© 1981 The American Society for Clinical Investigation
Published October 1, 1981 - Version history
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Abstract

We report the characterization of a molecular lesion of beta thalassemia in Sardinia. Beta thalassemia in this area is predominantly the beta zero type with low levels of beta-globin mRNA. Translation assay of this messenger RNA in a cell-free system showed beta-globin chain synthesis only with the addition of an amber (UAG) suppressor transfer RNA. Double-stranded complementary DNA prepared from reticulocyte mRNA from a Sardinian patient was cloned in a bacterial plasmid and a beta-globin complementary DNA containing clone was isolated and sequenced. At the position corresponding to amino acid number 39, a single nucleotide mutation converted a glutamine codon (CAG) to an amber termination codon (UAG). We previously reported an amber nonsense mutation at amino acid 17 as a cause of Chinese beta zero thalassemia. Thus, beta zero thalassemia in Sardinia represents the second example of a nonsense mutation, and we predict that other beta zero thalassemias with mutations at various points along the beta-globin chain will be found to form a discrete subgroup of beta zero thalassemia. These experiments further illustrate the heterogeneity of lesions that lead to defective globin chain synthesis in beta thalassemia.

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