β-globin gene inactivation by DNA translocation in γ β-thalassaemia.
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.
|Keywords||*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|
|Publisher||Nature Publishing Group NPG (MacMillan)|