A novel beta-thalassaemia mutation in the 5' untranslated region of the beta-globin gene.

TitleA novel beta-thalassaemia mutation in the 5' untranslated region of the beta-globin gene.
Publication TypeJournal Article
Year of Publication1994
AuthorsAthanassiadou, A, Papachatzopoulou, A, Zoumbos, N, Maniatis, GM, Gibbs, RA
JournalBr J Haematol
Volume88
Issue2
Pagination307-10
Date Published1994 Oct
ISSN0007-1048
KeywordsAged, Base Sequence, beta-Thalassemia, Blotting, Northern, DNA Mutational Analysis, Female, Globins, Humans, Molecular Sequence Data, RNA, Messenger, Sequence Deletion, Thymidine
Abstract

A thymidine deletion at position +10 of the 5' untranslated region of the beta-globin gene was detected in a beta-thalassaemia intermedia patient carrying a beta(0)39 stop codon mutation on the other chromosome; this new mutation, +10(-T), was detected by automated fluorescent DNA sequencing and verified by dot-blot allele-specific hybridizations. The +10(-T) mutation is a 'silent carrier', is associated with a reduced amount of steady-state beta-globin mRNA, and establishes a connection between the 5' untranslated region of the beta-globin gene and the regulation of its expression.

Alternate JournalBr. J. Haematol.
PubMed ID7803275