Sequence change in the HS2-LCR and Gg-globin gene promoter region of sickle cell anemia patients
| Autor: | Marilda Souza Goncalves, Leandro Santos, Elisângela Vitória Adorno, Isa Menezes Lyra, J.P. Moura-Neto, M.O. Seixas, Angela A. D. Zanette, Mitermayer G. Reis |
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| Rok vydání: | 2008 |
| Předmět: |
Adult
Genetic Markers Genotype Physiology Immunology Biophysics Ocean Engineering Anemia Sickle Cell Biology Biochemistry hemic and lymphatic diseases Fetal hemoglobin medicine Deoxyribonuclease I Humans General Pharmacology Toxicology and Pharmaceutics Child Promoter Regions Genetic Gene Fetal Hemoglobin Locus control region Sequence (medicine) General Neuroscience Haplotype Promoter Cell Biology General Medicine Middle Aged Locus Control Region medicine.disease Molecular biology Sickle cell anemia Globins Haplotypes Child Preschool human activities |
| Zdroj: | Brazilian Journal of Medical and Biological Research. 41:95-98 |
| ISSN: | 1414-431X 0100-879X |
| DOI: | 10.1590/s0100-879x2008005000002 |
| Popis: | 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 sS 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. |
| Databáze: | OpenAIRE |
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