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| Barbosa,C.G.; Goncalves-Santos,N.J.; Souza-Ribeiro,S.B.; Moura-Neto,J.P.; Takahashi,D.; Silva,D.O.; Hurtado-Guerrero,A.F.; Reis,M.G.; Goncalves,M.S.. |
| Fetal hemoglobin (HbF), encoded by the HBG2 and HBG1 genes, is the best-known genetic modulator of sickle cell anemia, varying dramatically in concentration in the blood of these patients. This variation is partially associated with polymorphisms located in the promoter region of the HBG2 and HBG1 genes. In order to explore known and unknown polymorphisms in these genes, the sequences of their promoter regions were screened in sickle cell anemia patients and correlated with both their HbF levels and their βS-globin haplotypes. Additionally, the sequences were compared with genes from 2 healthy groups, a reference one (N = 104) and an Afro-descendant one (N = 98), to identify polymorphisms linked to the ethnic background.The reference group was composed by... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Fetal hemoglobin; Sickle cell anemia; HBG1 gene; HBG2 gene. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2010000800002 |
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| Adorno,E.V.; Moura-Neto,J.P.; Lyra,I.; Zanette,A.; Santos,L.F.O.; Seixas,M.O.; Reis,M.G.; Goncalves,M.S.. |
| 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... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Fetal hemoglobin; Sickle cell anemia; SSS-globin gene haplotypes; Locus control region; G-globin promoter. |
| Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000200003 |
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