BETA-THALASSEMIA DUE TO 2 NOVEL NUCLEOTIDE SUBSTITUTIONS IN CONSENSUS ACCEPTOR SPLICE SEQUENCES OF THE BETA-GLOBIN GENE
- 1 March 1989
- journal article
- research article
- Vol. 73 (4) , 914-918
Abstract
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 mutants provides further support for the importance of the locating of specific nucleotides within the consensus sequences in splice site selection and RNA processing.This publication has 11 references indexed in Scilit:
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