A novel β‐thalassaemia mutation in the 5’untranslated region of the β‐globin gene
- 1 October 1994
- journal article
- case report
- Published by Wiley in British Journal of Haematology
- Vol. 88 (2) , 307-310
- https://doi.org/10.1111/j.1365-2141.1994.tb05023.x
Abstract
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.Keywords
This publication has 13 references indexed in Scilit:
- DNA haplotype heterogeneity of β-thalassaemia in Greece: feasibility of prenatal diagnosisBritish Journal of Haematology, 2008
- Evidence that nucleosomes on the mouse mammary tumor virus promoter adopt specific translational positionsNucleic Acids Research, 1992
- The G→A Mutation at Position +22 31to the Cap Site of the β-Globin Gene as a Possible Cause for a β-ThalassemiaHemoglobin, 1991
- Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan familiesGenomics, 1990
- Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNANature, 1987
- Fine Structure Genetic Analysis of a β-Globin PromoterScience, 1986
- GγAγ(δβ)°‐thalassaemia and a new form of γ globin gene triplication identified in the Yugoslavian populationBritish Journal of Haematology, 1986
- The triplicated α gene locus and β thalassaemiaBritish Journal of Haematology, 1983
- Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene clusterNature, 1982
- Estimation of Small Percentages of Fœtal HæmoglobinNature, 1959