Combination of two rare mutations causes β -thalassaemia in a Bangladeshi patient
Genet. mol. biol
; 34(3): 406-409, 2011. ilus
Artigo
em Inglês
| LILACS
| ID: lil-595993
Biblioteca responsável:
BR1.1
ABSTRACT
Screening of mutations that cause β-thalassaemia in the Bangladeshi population led to the identification of a patient with a combination of two rare mutations, Hb Monroe and HBB: -92C>G.The β-thalassaemia major male individual was transfusion-dependent and had an atypical β-globin gene cluster haplotype. Of the two mutations, Hb Monroe has been characterized in detail. Clinical effects of the other mutation, HBB: -92C>G,are unknown so far. Bioinformatics analyses were carried out to predict the possible effect of this mutation. These analyses revealed the presence of a putative binding site for Egr1, a transcription factor, within the HBB:-92 region. Our literature survey suggests a close relationship between different phenotypic manifestations of β-thalassaemia and Egr1 expression.
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Assunto principal:
Fatores de Transcrição de Resposta de Crescimento Precoce
/
Proteína 1 de Resposta de Crescimento Precoce
Tipo de estudo:
Estudo de etiologia
/
Estudo prognóstico
Idioma:
Inglês
Revista:
Genet. mol. biol
Assunto da revista:
Genética
Ano de publicação:
2011
Tipo de documento:
Artigo
País de afiliação:
Bangladesh
Instituição/País de afiliação:
Dhaka Shishu Hospital/BD
/
University of Dhaka/BD