Sequence change in the HS2-LCR and Gg-globin gene promoter region of sickle cell anemia patients
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- info:eu-repo/semantics/article
- info:eu-repo/semantics/publishedVersion
- 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