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

By Elisângela Vitória Adorno, José Pereira de Moura Neto, Isa Menezes Lyra, Angela Maria Dias Zanette, L. F. O. Santos, Magda Oliveira Seixas, Mitermayer Galvão dos Reis and Marilda de Souza Gonçalves


The fetal hemoglobin (HbF) levels and betaS-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 percent) patients had CAR/Ben genotype; 36 (28.8 percent) Ben/Ben; 18 (14.4 percent) CAR/CAR; 2 (1.6 percent) CAR/Atypical; 2 (1.6 percent) Ben/Cam; 1 (0.8 percent) CAR/Cam; 1 (0.8 percent) CAR/Arab-Indian, and 1 (0.8 percent) 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

Topics: Sickle cell anemia, ßS-globin gene haplotypes, Locus control region, γ-globin promoter, Anemia Falciforme/genética, Desoxirribonuclease I/genética, Globinas/genética, Região de Controle de Locus Gênico/genética, -Hemoglobina Fetal/análise, Marcadores Genéticos/genética, Genótipo, Haplotipos, Regiões Promotoras Genéticas/genética, Adulto, Criança, Pré-Escolar, Humanos, Meia-Idade, Research Support, Non-U.S. Gov't
Year: 2008
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