Characterization of beta-thalassemia mutations in patients from the state of Rio Grande do Norte, Brazil
Genet. mol. biol
;
34(3): 425-428, 2011.
Artículo
en Inglés
| 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:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Población
/
Talasemia
/
Brasil
/
Reacción en Cadena de la Polimerasa
/
Hemoglobinopatías
/
Mutación
Límite:
Femenino
/
Humanos
/
Masculino
País/Región como asunto:
America del Sur
/
Brasil
Idioma:
Inglés
Revista:
Genet. mol. biol
Asunto de la revista:
Genética
Año:
2011
Tipo del documento:
Artículo
/
Documento de proyecto
País de afiliación:
Brasil
Institución/País de afiliación:
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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