| Texto completo | |
| Autor(es): |
Luna da Silveira, Zama Messala
[1]
;
Barbosa, Maria das Vitorias
[1]
;
Araujo de Medeiros Fernandes, Thales Allyrio
[2]
;
Kimura, Elza Miyuki
[3]
;
Costa, Fernando Ferreira
[4]
;
Sonati, Maria de Fatima
[3]
;
Moretti Rebecchi, Ivanise Marina
[1]
;
Dantas de Medeiros, Tereza Maria
[1]
Número total de Autores: 8
|
| Afiliação do(s) autor(es): | [1] Univ Fed Rio Grande do Norte, Dept Anal Clin & Toxicol, BR-59010180 Natal, RN - Brazil
[2] Univ Estado Rio Grande do Norte, Dept Ciencias Biomed, Mossoro, RN - Brazil
[3] Univ Estadual Campinas, Dept Patol Clin, Fac Ciencias Med, Campinas, SP - Brazil
[4] Univ Estadual Campinas, Hemoctr, Campinas, SP - Brazil
Número total de Afiliações: 4
|
| Tipo de documento: | Artigo Científico |
| Fonte: | GENETICS AND MOLECULAR BIOLOGY; v. 34, n. 3, p. 425-428, 2011. |
| Citações Web of Science: | 6 |
| Resumo | |
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 (β0IVS-I-1, β+IVS-I-6, and β039). 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 β0IVS-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. (AU) | |
| Processo FAPESP: | 08/57441-0 - Alterações clínicas, celulares e moleculares nas hemoglobinopatias e em outras anemias hemolíticas hereditárias |
| Beneficiário: | Fernando Ferreira Costa |
| Modalidade de apoio: | Auxílio à Pesquisa - Temático |