mRNA-deficint β°-thaladssemia results from a single nucleotide deletion
- 1 January 1982
- journal article
- Published by Oxford University Press (OUP) in Nucleic Acids Research
- Vol. 10 (18), 5421-5427
- https://doi.org/10.1093/nar/10.18.5421
Abstract
The beta-globin gene of a patient with mRNA-deficient beta o-thalassemia has been sequenced. We find a single nucleotide deletion in amino acid codon 44 that produces a UGA terminator at codon 60. We have previously shown that the beta-globin mRNA of this patient is correctly spliced and polyadenylated, but rapidly turns over with a half-life of less than 30 min. We suggest that the rapid mRNA turnover is influenced by the deletion of this single nucleotide as well as by the nonsense codon.Keywords
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