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SEQUENCE CHANGE IN THE HS2-LCR AND GG-GLOBIN GENE PROMOTER REGION OF SICKLE CELL ANEMIA PATIENTS
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
Author
Affilliation
Abstract
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.
DeCS
Anemia Falciforme/genéticaDesoxirribonuclease 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
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