β-Thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the β-globin gene Academic Article uri icon

Overview

MeSH Major

  • Genes
  • Globins
  • Thalassemia

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 mutations provides further support for the importance of the location of specific nucleotides within the consensus sequences in splice site selection and RNA processing.

publication date

  • January 1989

Research

keywords

  • Academic Article

Identity

Language

  • eng

PubMed ID

  • 2920213

Additional Document Info

start page

  • 914

end page

  • 8

volume

  • 73

number

  • 4