Molecular Analysis of fl#{176}-Thalassemia Intermedia in Sardinia
نویسندگان
چکیده
In this study we have carried out aand -globin gene analysis and defined the fl-globin gene polymorphisms in a group of patients with thalassemia intermedia of Sardinian descent. A group of patients (109) with thalassemia major of the same origin served as control. Characterization of the j9-thalassemia mutation showed either a frameshift mutation at codon 6 or a codon 39 nonsense mutation. We found that homozygotes for the frameshift mutation at codon 6 or compound heterozygotes for this mutation and for the codon 39 nonsense mutation develop thalassemia intermedia more frequently than thalassemia major. The frameshift mutation at codon 6 was associated with haplotype IX that contains the C-T change at position 1 58 5’ to
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Functional human globin messenger RNA but failed to stimulate the synthesis of any was isolated from reticulocytes of two paf. -chains, even though nonthalassemic tients with homozygous /3#{176}-thalassemia, human globin mRNA preparations conthree patients with sickle cell fl#{176}-thalassistently stimulated two to four times as semia, and one patient doubly heteromuch fl or globin chain synthe...
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