Article
Beta-globin gene inactivation by DNA translocation in gamma beta-thalassaemia.
Nature - 1 Jan 2000
Kioussis D, Vanin E, deLange T, Flavell R A, Grosveld F G
Abstract excerpt
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...
Topics
- Alleles
- Base Sequence
- DNA
- DNA Restriction Enzymes
- Genes
- Globins
- HeLa Cells
- Humans
- Methylation
- Mutation
- Thalassemia
- Transcription, Genetic