| Registro completo |
| Provedor de dados: |
BJMBR
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| País: |
Brazil
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| Título: |
Sequence change in the HS2-LCR and Gg-globin gene promoter region of sickle cell anemia patients
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| Autores: |
Adorno,E.V.
Moura-Neto,J.P.
Lyra,I.
Zanette,A.
Santos,L.F.O.
Seixas,M.O.
Reis,M.G.
Goncalves,M.S.
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| Data: |
2008-02-01
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| Ano: |
2008
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| Palavras-chave: |
Fetal hemoglobin
Sickle cell anemia
SSS-globin gene haplotypes
Locus control region
G-globin promoter
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| Resumo: |
The fetal hemoglobin (HbF) levels and ßS-globin gene haplotypes of 125 sickle cell anemia patients from Brazil were investigated. We sequenced the Gg- and Ag-globin gene promoters and the DNase I-2 hypersensitive sites in the locus control regions (HS2-LCR) of patients with HbF level disparities as compared to their ßS haplotypes. Sixty-four (51.2%) patients had CAR/Ben genotype; 36 (28.8%) Ben/Ben; 18 (14.4%) CAR/CAR; 2 (1.6%) CAR/Atypical; 2 (1.6%) Ben/Cam; 1 (0.8%) CAR/Cam; 1 (0.8%) CAR/Arab-Indian, and 1 (0.8%) Sen/Atypical. The HS2-LCR sequence analyses demonstrated a c.-10.677G>A change in patients with the Ben haplotype and high HbF levels. The Gg gene promoter sequence analyses showed a c.-157T>C substitution shared by all patients, and a c.-222_-225del related to the Cam haplotype. These results identify new polymorphisms in the HS2-LCR and Gg-globin gene promoter. Further studies are required to determine the correlation between HbF synthesis and the clinical profile of sickle cell anemia patients.
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| Tipo: |
Info:eu-repo/semantics/other
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| Idioma: |
Inglês
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| Identificador: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000200003
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| Editor: |
Associação Brasileira de Divulgação Científica
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| Relação: |
10.1590/S0100-879X2008005000002
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| Formato: |
text/html
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| Fonte: |
Brazilian Journal of Medical and Biological Research v.41 n.2 2008
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| Direitos: |
info:eu-repo/semantics/openAccess
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