The beta-globin gene present on the deletion locus in a Dutch gamma beta-thalassaemic patient was found to be identical to the normal beta-globin gene with respect to DNA sequence and its transcription in HeLa cells. DNase I sensitivity and methylation experiments show that the affected beta-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 beta-globin gene on the affected chromosome, or the deletion of sequences which are normally required for the maintenance of the active state.

*Genes, Structural, *Translocation (Genetics), 9004-22-2 (Globins), 9007-49-2 (dna), Alleles, Base Sequence, DNA Restriction Enzymes, DNA/genetics, EC 3.1.21 (DNA Restriction Enzymes), Globins/*genetics, Hela Cells/metabolism, Human, Methylation, Mutation, Support, Non-U.S. Gov't, Support, U.S. Gov't, P.H.S., Thalassemia/*genetics, Transcription, Genetic
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Erasmus MC: University Medical Center Rotterdam

Kioussis, D, Vanin, E, de Lange, T, Flavell, R.A, & Grosveld, F.G. (1983). β-globin gene inactivation by DNA translocation in γ β-thalassaemia. Nature: international weekly journal of science, 306, 662–666. doi:10.1038/306662a0