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Please use this identifier to cite or link to this item: http://repositorio.ufba.br/ri/handle/ri/6404

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.
Keywords: Fetal hemoglobin;Sickle cell anemia;ßS-globin gene haplotypes;Locus control region;g-globin promoter
Issue Date: 2008
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.
Description: p. 95-98.
URI: http://www.repositorio.ufba.br/ri/handle/ri/6404
ISSN: 1414-431X
Appears in Collections:Artigos Publicados em Periódicos (FARMACIA)

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