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Nonsense codon mutations in the terminal exon of the beta-globin gene are
not associated with a reduction in beta-mRNA accumulation: a mechanism for
the phenotype of dominant beta-thalassemia
GW Hall and S Thein
MRC Molecular Haematology Unit, John Radcliffe Hospital, Oxford, UK.
We present in vivo evidence that there is no reduction in beta-mRNA
accumulation in patients with nonsense codons in the terminal exon of the
beta-globin gene. Using reverse transcriptase/polymerase chain reaction
(RT-PCR), beta-globin cDNA was isolated from the reticulocytes of
individuals heterozygous for nonsense codon mutations in exons II and III
of the beta-globin gene. Clinically asymptomatic individuals heterozygous
for mutations causing premature termination of translation in exon II
[beta(0)39(C-T) and F/S71/72(+A)] were found to have almost no mutant
beta-cDNA, whereas patients with nonsense codon mutations in exon III [beta
121(G-T) and beta 127(C-T)] with the clinical phenotype of thalassemia
intermedia had comparable levels of mutant and normal beta-cDNA.
Translation of the mutant beta-mRNA from patients with nonsense codon
mutations in exon III would give rise to truncated beta- globin chains,
which could explain the more severe phenotype seen in these individuals.
Volume 83,
Issue 8,
pp. 2031-2037,
04/15/1994
Copyright © 1994 by The American Society of Hematology
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