Frameshift codon 5 [Fsc-5 (-CT)] thalassemia; a novel mutation detected in a Greek patient.
Sequence analysis and dot-blot hybridization of DNA from a Greek patient with a transfusion dependent thalassemia revealed the combination of a beta IVS-I-1 G----A mutation (beta(0) -thalassemia) and a hitherto undescribed frameshift mutation; the latter concerns the absence of a CT dinucleotide from codon 5 and results in a termination signal at the new codon 21 (also a beta (0)-thalassemia).
Kollia
P
P
First Department of Medicine, University of Athens School of Medicine, Laikon Hospital, Greece.
Gonzalez-Redondo
J M
JM
Stoming
T A
TA
Loukopoulos
D
D
Politis
C
C
Huisman
T H
TH
D000293:Adolescent; D001483:Base Sequence; D003062:Codon; D004252:DNA Mutational Analysis; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010443:Peptide Chain Termination, Translational; D013789:Thalassemia / Q000235:genetics*
D003062:Codon; D005914:Globins