A novel β-thalassaemia mutation in the 5’untranslated region of the β-globin gene
| Autor: | George M. Maniatis, Richard A. Gibbs, Nicholas C. Zoumbos, Aglaia Athanassiadou, Adamandia Papachatzopoulou |
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| Rok vydání: | 1994 |
| Předmět: |
Genetics
Untranslated region Messenger RNA Base Sequence Five prime untranslated region DNA Mutational Analysis Molecular Sequence Data beta-Thalassemia Chromosome RNA Hematology Biology Blotting Northern Molecular biology DNA sequencing Globins hemic and lymphatic diseases Mutation (genetic algorithm) Humans Female RNA Messenger Gene Aged Sequence Deletion Thymidine |
| Zdroj: | British Journal of Haematology. 88:307-310 |
| ISSN: | 1365-2141 0007-1048 |
| DOI: | 10.1111/j.1365-2141.1994.tb05023.x |
| Popis: | A thymidine deletion at position +10 of the 5' untranslated region of the beta-globin gene was detected in a beta-thalassaemia intermedia patient carrying a beta(0)39 stop codon mutation on the other chromosome; this new mutation, +10(-T), was detected by automated fluorescent DNA sequencing and verified by dot-blot allele-specific hybridizations. The +10(-T) mutation is a 'silent carrier', is associated with a reduced amount of steady-state beta-globin mRNA, and establishes a connection between the 5' untranslated region of the beta-globin gene and the regulation of its expression. |
| Databáze: | OpenAIRE |
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