Characterization of beta-thalassemia mutations in patients from the state of Rio Grande do Norte, Brazil
Genet. mol. biol
;
34(3): 425-428, 2011.
Artigo
em Inglês
| LILACS
| ID: lil-595990
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 (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 percent) had the β+IVS-I-6 mutation, 15 (48.4 percent) the β0IVS-I-1 mutation, 2 (6.5 percent) the β+IVS-I-110 mutation and 1 (3.2 percent) 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.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
População
/
Talassemia
/
Brasil
/
Reação em Cadeia da Polimerase
/
Hemoglobinopatias
/
Mutação
Limite:
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
América do Sul
/
Brasil
Idioma:
Inglês
Revista:
Genet. mol. biol
Assunto da revista:
Genética
Ano de publicação:
2011
Tipo de documento:
Artigo
/
Documento de projeto
País de afiliação:
Brasil
Instituição/País de afiliação:
Universidade Estadual de Campinas/BR
/
Universidade Federal do Rio Grande do Norte/BR
/
Universidade do Estado do Rio Grande do Norte/BR
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