| Registro completo |
| Provedor de dados: |
Genet. Mol. Biol.
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| País: |
Brazil
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| Título: |
Combination of two rare mutations causes β-thalassaemia in a Bangladeshi patient
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| Autores: |
Moosa,Mahdi Muhammad
Ayub,Mustak Ibn
Bashar,AMA Emran
Sarwardi,Golam
Khan,Waqar
Khan,Haseena
Yeasmin,Sabina
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| Data: |
2011-01-01
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| Ano: |
2011
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| Palavras-chave: |
Hb Monroe HBB: -92C>
G transcription factor Egr1
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| Resumo: |
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.
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| Tipo: |
Info:eu-repo/semantics/article
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| Idioma: |
Inglês
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| Identificador: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300006
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| Editor: |
Sociedade Brasileira de Genética
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| Relação: |
10.1590/S1415-47572011005000026
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| Formato: |
text/html
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| Fonte: |
Genetics and Molecular Biology v.34 n.3 2011
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| Direitos: |
info:eu-repo/semantics/openAccess
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