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A novel β‐thalassaemia mutation in the 5’untranslated region of the β‐globin gene
Author(s) -
Athanassiadou Aglaia,
Papachatzopoulou Adamandia,
Zoumbos Nicholas,
Maniatis George M.,
Gibbs Richard
Publication year - 1994
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1994.tb05023.x
Subject(s) - genetics , mutation , gene , globin , untranslated region , biology , messenger rna
Summary. A thymidine deletion at position +10 of the 5’untranslated region of the β‐globin gene was detected in a β‐thalassaemia intermedia patient carrying a βd́; 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 β‐globin mRNA, and establishes a connection between the 5’untranslated region of the β‐globin gene and the regulation of its expression.