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Genetic variants in the G gamma-globin promoter modulate fetal hemoglobin expression in the Colombian population Genet. Mol. Biol.
Fong,Cristian; Mendoza,Yesica; Barreto,Guillermo.
Abstract Fetal hemoglobin (HbF) is a determining factor for the development of sickle cell anemia. High HbF levels lower the intensity of symptoms of this disease. HbF levels can vary in patients with sickle cell anemia and individuals without the disease. The purpose of this study was to identify the genetic variants in the G gamma-globin gene promoter that can modulate HbF expression in patients with sickle cell anemia and healthy individuals from Colombia. In total, 413 bp of the G gamma-globin gene promoter were sequenced in 60 patients with sickle cell anemia and 113 healthy individuals. The allelic and genotype frequencies of the identified variants were compared between individuals with low and high HbF for both patients and healthy individuals. In...
Tipo: Info:eu-repo/semantics/other Palavras-chave: Sickle cell anemia; Fetal hemoglobin; Gamma globin; Regulation of gene expression; Colombia.
Ano: 2020 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400103
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