Beta-thalassemia due to a T----A mutation within the ATA box.
Sequence analyses of amplified DNA from a Yugoslavian patient with Hb Lepore-beta-thalassemia and from his father with a simple beta-thalassemia trait have revealed a T----A mutation within the ATA box at a position 30 base pairs upstream from the Cap site. The nucleotide substitution was confirmed through dot-blot analysis of amplified DNA with specific 32P-labeled synthetic oligonucleotide probes. The patient had a clinically severe condition; his Hb Lepore-beta-thalassemia was of the beta + type, as about 8-10% of the non-alpha chain was normal beta A. The same T----A mutation at nucleotide -30 was present on both chromosomes of a young Turkish patient who suffered from a thalassemia intermedia with a low level of Hb F (13.1%) and a relatively high beta A chain synthesis. These data are similar to those obtained for other types of beta +-thalassemia caused by comparable substitutions at positions 31, 29, and 28 base pairs upstream from the Cap site of the beta-globin gene.
Fei
Y J
YJ
Department of Cell and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
Stoming
T A
TA
Efremov
G D
GD
Efremov
D G
DG
Battacharia
R
R
Gonzalez-Redondo
J M
JM
Altay
C
C
Gurgey
A
A
Huisman
T H
TH
D001483:Base Sequence; D005914:Globins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D011401:Promoter Regions, Genetic; D012045:Regulatory Sequences, Nucleic Acid; D013789:Thalassemia / Q000235:genetics*; D014158:Transcription, Genetic
D005914:Globins