Abstract
The common form of β thalassaemia associated with elevated haemoglobin A2 levels can be broadly classified as β+ or β0 type according to the presence or absence of β-globin chain synthesis in the homozygous state1–4. The molecular pathology of each type is heterogeneous3–9. Apart from a subgroup of Indo-Pakistani patients10, the β-globin structural gene is intact in the majority of patients with β0 thalassaemia2–4. The amount of β-globin mRNA present in the reticulocytes of these patients varies5–7: in some it is absent or barely detectable; in others, a substantial amount is present, but it is nonfunctional. We recently demonstrated that the molecular lesion in a Chinese patient with nonfunctional β-globin mRNA11,12 was due to the mutation of the normal lysine codon AAG at amino acid 17 to the amber terminator codon UAG, which prematurely terminates the β-globin chain13. In the present study we demonstrate the first example of a nonsense mutation in humans which can be suppressed in vitro by the suppressor tRNA, as has been found in other eukaryotic cells and viruses14,15.
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Chang, J., Temple, G., Trecartin, R. et al. Suppression of the nonsense mutation in homozygous β0 thalassaemia. Nature 281, 602–603 (1979). https://doi.org/10.1038/281602a0
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DOI: https://doi.org/10.1038/281602a0
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