Beta-globin gene inactivation by DNA translocation in gamma beta-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.
D000483:Alleles; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D004262:DNA Restriction Enzymes; D005796:Genes; D005914:Globins / Q000235:genetics*; D006367:HeLa Cells / Q000378:metabolism; D006801:Humans; D008745:Methylation; D009154:Mutation; D013789:Thalassemia / Q000235:genetics*; D014158:Transcription, Genetic; D014178:Translocation, Genetic
D005914:Globins; D004247:DNA; D004262:DNA Restriction Enzymes