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metadata.dc.type: | Artigo de Periódico |
Title: | Sequence change in the HS2-LCR and Gγ-globin gene promoter region of sickle cell anemia patients |
Other Titles: | Brazilian Journal of Medical and Biological Research |
Authors: | Adorno, Elisângela Vitória Moura Neto, José Pereira de Lyra, Isa Menezes Zanette, Angela Maria Dias Santos, L. F. O. Seixas, Magda Oliveira Reis, M. G. Goncalves, M. S. |
metadata.dc.creator: | Adorno, Elisângela Vitória Moura Neto, José Pereira de Lyra, Isa Menezes Zanette, Angela Maria Dias Santos, L. F. O. Seixas, Magda Oliveira Reis, M. G. Goncalves, M. S. |
Abstract: | 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. |
Keywords: | Fetal hemoglobin Sickle cell anemia ßS-globin gene haplotypes Locus control region g-globin promoter |
URI: | http://www.repositorio.ufba.br/ri/handle/ri/6404 |
Issue Date: | 2008 |
Appears in Collections: | Artigo Publicado em Periódico (FAR) |
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