Abstract
In γ-β-thalassaemia, human γ- and β-globin gene expression is suppressed; this results in a severe anaemia in newborns which subsequently develops into a β-thalassaemia syndrome in adult life. This hereditary disease is now shown to be the result of a deletion of at least 40,000 base pairs of the γδβ -globin gene locus. The γ- and δ-globin genes are deleted in the affected chromosome but, surprisingly, the β-globin gene is still present, together with a large segment of the DNA sequences flanking the gene on its 5′-side and the entire region on the 3′-side of the gene. Hence, a deletion of DNA far from the β-globin gene results in the suppression of its activity.
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Van der Ploeg, L., Konings, A., Oort, M. et al. γ-β-Thalassaemia studies showing that deletion of the γ- and δ-genes influences β-globin gene expression in man. Nature 283, 637–642 (1980). https://doi.org/10.1038/283637a0
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DOI: https://doi.org/10.1038/283637a0
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