Abstract
The β-globin gene present on the deletion locus in a Dutch γβ-thalassaemic patient was found to be identical to the normal β-globin gene with respect to DNA sequence and its transcription in HeLa cells. DNase I sensitivity and methylation experiments show that the affected β-globin gene is present in an inactive configuration in vivo. This is the result of a translocation of a normally inactive locus next to the β-globin gene on the affected chromosome, or the deletion of sequences which are normally required for the maintenance of the active state.
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Kioussis, D., Vanin, E., deLange, T. et al. β-Globin gene inactivation by DNA translocation in γβ-thalassaemi. Nature 306, 662–666 (1983). https://doi.org/10.1038/306662a0
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DOI: https://doi.org/10.1038/306662a0
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