Data/hora: 09/06/2024 05:43:06

Provedor de dados: | 56
País: | Brazil
Título: | Sequence change in the HS2-LCR and Gg-globin gene promoter region of sickle cell anemia patients
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.
Data: | 2008-02-01
Ano: | 2008
Palavras-chave: | Fetal hemoglobin; Sickle cell anemia; SSS-globin gene haplotypes; Locus control region; G-globin promoter.
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&gt;A change in patients with the Ben haplotype and high HbF levels. The Gg gene promoter sequence analyses showed a c.-157T&gt;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.
Tipo: | Info:eu-repo/semantics/other
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000200003
Editor: | Associação Brasileira de Divulgação Científica
Relação: | 10.1590/S0100-879X2008005000002
Formato: | text/html
Fonte: | Brazilian Journal of Medical and Biological Research  v.41 n.2 2008
Fonte: | info:eu-repo/semantics/openAccess