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

@article{Wong1989BetathalassemiaDT,
  title={Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta-globin gene.},
  author={Carolyn Wong and Stylianos E. Antonarakis and Sabra C. Goff and Stuart H Orkin and Bernard G. Forget and David G. Nathan and Patricia J. V. Giardina and Haig H. Kazazian},
  journal={Blood},
  year={1989},
  volume={73 4},
  pages={914-8}
}
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… CONTINUE READING