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	Provedor de dados Genet. Mol. Biol. (2) Autor Barreto,Guillermo (2) Fong,Cristian (2) Lizarralde-Iragorri,María Alejandra (1) Mendoza,Yesica (1) Rojas-Gallardo,Diana (1) Palavra-chave Sickle cell anemia (2) Afro-Colombians (1) BetaS globin-gene cluster haplotypes (1) Colombia (1) Fetal hemoglobin (1) Gamma globin (1) HbS haplotypes (1) HbS in Colombia (1) Regulation of gene expression (1) Mais... Tipo do documento Info:eu-repo/semantics/other (2) Ano 2020 (1) 2013 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última 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 Frequency and origin of haplotypes associated with the beta-globin gene cluster in individuals with trait and sickle cell anemia in the Atlantic and Pacific coastal regions of Colombia Genet. Mol. Biol. Fong,Cristian; Lizarralde-Iragorri,María Alejandra; Rojas-Gallardo,Diana; Barreto,Guillermo. Sickle cell anemia is a genetic disease with high prevalence in people of African descent. There are five typical haplotypes associated with this disease and the haplotypes associated with the beta-globin gene cluster have been used to establish the origin of African-descendant people in America. In this work, we determined the frequency and the origin of haplotypes associated with hemoglobin S in a sample of individuals with sickle cell anemia (HbSS) and sickle cell hemoglobin trait (HbAS) in coastal regions of Colombia. Blood samples from 71 HbAS and 79 HbSS individuals were obtained. Haplotypes were determined based on the presence of variable restriction sites within the β-globin gene cluster. On the Pacific coast of Colombia the most frequent... Tipo: Info:eu-repo/semantics/other Palavras-chave: Sickle cell anemia; HbS haplotypes; BetaS globin-gene cluster haplotypes; HbS in Colombia; Afro-Colombians. Ano: 2013 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000400005 Registros recuperados: 2 Primeira ... 1 ... Última

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