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Characterization of beta-thalassemia mutations in patients from the state of Rio Grande do Norte, Brazil.

Authors
Type
Published Article
Journal
Genetics and Molecular Biology
1678-4685
Publisher
SciELO
Publication Date
Volume
34
Issue
3
Pages
425–428
Identifiers
DOI: 10.1590/S1415-47572011005000032
PMID: 21931514
Source
Medline
Keywords
License
Unknown

Abstract

35 unrelated individuals were studied for characterization as either heterozygous or homozygous for beta-thalassemia. Molecular analysis was done by PCR/RFLP to detect the mutations most commonly associated with beta-thalassemia (β(0)IVS-I-1, β(+)IVS-I-6, and β(0)39). In the patients who showed none of these mutations, the beta-globin genes were sequenced. Of the 31 heterozygous patients, 13 (41.9%) had the β(+)IVS-I-6 mutation, 15 (48.4%) the β(0)IVS-I-1 mutation, 2 (6.5%) the β(+)IVS-I-110 mutation and 1 (3.2%) the β(+)IVS-I-5 mutation. IVS-I-6 was detected in the four homozygotes. The mutation in codon 39, often found in previous studies in Brazil, was not detected in the present case. This is the first study aiming at identifying mutations that determine beta-thalassemia in the state of Rio Grande do Norte.

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