Functional analysis of the 4 bp deletion identified in the 5' untranslated region of one of the beta-globin genes from a Chinese beta-thalassaemic heterozygote.
Two plasmids have been constructed in which a beta-galactosidase/phleomycin-resistance fusion gene reporter is placed under the control of the human beta-globin gene promoter and 5' untranslated region including or not including nucleotides 40-43 previously found deleted in one Chinese beta-thalassaemic allele. Transient expression assays of these two plasmids failed to reveal any significative effect of this 4 bp deletion either on the level of the beta-galactosidase activity produced in HeLa cells transfected in standard conditions, or on the rate of synthesis of the beta-galactosidase protein in transfected HeLa cells submitted to increasing osmotic shocks. These results suggest that this 4 bp deletion is not responsible for the beta-thalassaemic phenotype in vivo.
Francès
V
V
Centre de Génétique Moléculaire et Cellulaire (CNRS UMR106), Université de Lyon I, Villeurbanne, France.
Morlé
F
F
Godet
J
J
D001483:Base Sequence; D005914:Globins / Q000235:genetics*; D006367:HeLa Cells; D006579:Heterozygote; D006801:Humans; D008969:Molecular Sequence Data; D017384:Sequence Deletion; D014162:Transfection; D017086:beta-Thalassemia / Q000235:genetics*
D005914:Globins