A novel beta-thalassaemia mutation in the 5' untranslated region of the beta-globin gene.
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.
Athanassiadou
A
A
Department of Basic Sciences I, Medical Faculty, University of Patras, Greece.
Papachatzopoulou
A
A
Zoumbos
N
N
Maniatis
G M
GM
Gibbs
R
R
D000368:Aged; D001483:Base Sequence / Q000235:genetics*; D015152:Blotting, Northern; D004252:DNA Mutational Analysis; D005260:Female; D005914:Globins / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D012333:RNA, Messenger / Q000235:genetics; D017384:Sequence Deletion; D013936:Thymidine / Q000235:genetics; D017086:beta-Thalassemia / Q000097:blood / Q000235:genetics*
D012333:RNA, Messenger; D005914:Globins; D013936:Thymidine