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A new mutation in IVS-1 of the human beta globin gene causing beta
thalassemia due to abnormal splicing
GF Atweh, C Wong, R Reed, SE Antonarakis, D Zhu, PK Ghosh, T Maniatis, BG Forget and HH Kazazian
A G to T transversion at the fifth nucleotide of the first intervening
sequence (IVS-1) of the beta-globin gene has been identified in cloned
beta-thalassemia genes of two unrelated individuals, one of Mediterranean
and the other of Anglo Saxon ancestry. In each patient the mutation was
present in a different beta globin gene framework, defined by intragenic
restriction site polymorphisms, thereby suggesting the occurrence of
independent mutations. The study of the RNA products of one of these cloned
genes, after transfer and transient expression in HeLa cells, showed
partial inactivation of the normal donor splice site of IVS-1 and
activation of two major and one minor cryptic splice sites. Only one of the
two major cryptic sites was utilized in a cell-free splicing extract. The
effects of this mutation on messenger RNA (mRNA) splicing are similar to
that of another beta thalassemia gene with a G to C transition at the same
position.
Volume 70,
Issue 1,
pp. 147-151,
07/01/1987
Copyright © 1987 by The American Society of Hematology
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