Sequence change in the HS2-LCR and Gg-globin gene promoter region of sickle cell anemia patients

Brazilian Journal of Medical and Biological Research

E.v. Adorno²  J.p. Moura-neto¹  I. Lyra¹  A. Zanette¹  L.f.o. Santos²  M.o. Seixas²  M.g. Reis²  M.s. Goncalves² 

[1],FIOCRUZ Centro de Pesquisas Gonçalo Moniz Laboratório de Patologia e Biologia MolecularSalvador BA ,Brasil

关键词: Fetal hemoglobin;    Sickle cell anemia;    ßS-globin gene haplotypes;    Locus control region;    g-globin promoter;   

DOI  :  10.1590/S0100-879X2008005000002

来源: SciELO

【 摘 要 】

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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