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Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta-globin gene

C Wong, SE Antonarakis, SC Goff, SH Orkin, BG Forget, DG Nathan, PJ Giardina and HH Kazazian

Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore.

We have identified two novel RNA-splicing mutations affecting a critical nucleotide (nt) in the acceptor consensus sequences at both the IVS-1/exon 2 and IVS-2/exon 3 junctions of the human beta-globin gene. Both mutations are single nt substitutions, T to G and C to A, at position -3 adjacent to the invariant AG dinucleotide. For the IVS- 2/exon 3 mutation abnormal splicing into the cryptic splice site at IVS- 2 nt 579 is documented. Identification of these two mutations provides further support for the importance of the location of specific nucleotides within the consensus sequences in splice site selection and RNA processing.

Volume 73, Issue 4, pp. 914-918, 03/01/1989
Copyright © 1989 by The American Society of Hematology


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