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	Provedor de dados BJMBR (2) Autor Costa,F.F. (2) Saad,S.T.O. (2) Andrade,T.G. de (1) Fattori,A. (1) Gonçalves,M.S. (1) Junqueira,M.L. (1) Krieger,J.E. (1) Schreiber,R. (1) Sonati,M.F. (1) Mais... Palavra-chave Hereditary persistence of fetal hemoglobin (2) Fetal hemoglobin (1) Globin genes (1) HPFH (1) Sicilian thalassemia (1) Sickle cell (1) Thalassemia (1) Transient expression (1) Mais... Tipo do documento Info:eu-repo/semantics/other (2) Ano 2002 (1) 2001 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Molecular identification of Sicilian (dß)º-thalassemia associated with ß-thalassemia and hemoglobin S in Brazil BJMBR Andrade,T.G. de; Fattori,A.; Saad,S.T.O.; Sonati,M.F.; Costa,F.F.. We describe the clinical and molecular characteristics of two unrelated Brazilian families with an association of the Sicilian form of (dß)º-thalassemia with hemoglobin S and ß-thalassemia. Direct sequencing of the ß-globin gene showed only the hemoglobin S mutation in patient 1 and the ß-thalassemia IVS1-110 in patient 2. The other allele was deleted in both patients and PCR of DNA samples of the breakpoint region of both patients showed a band of approximately 1,150 bp, expected to be observed in the DNA of carriers of Sicilian (dß)º-thalassemia. The nucleotide sequence of this fragment confirmed the Sicilian deletion. There are few reports concerning the Hb S/(dß)º-thalassemia association and patient 2 is the first reported case of Sicilian type of... Tipo: Info:eu-repo/semantics/other Palavras-chave: Thalassemia; Sickle cell; Hereditary persistence of fetal hemoglobin; Globin genes; Sicilian thalassemia. Ano: 2002 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2002000800003 The Agamma-195 (C->G) mutation in hereditary persistence of fetal hemoglobin is not associated with activation of a reporter gene in vitro BJMBR Schreiber,R.; Gonçalves,M.S.; Junqueira,M.L.; Saad,S.T.O.; Krieger,J.E.; Costa,F.F.. Hereditary persistence of fetal hemoglobin is an uncommon, benign disorder in which the expression of gamma-globin genes persists into adult life. Several point mutations have been associated with the increased gamma-globin gene promoter activity. We evaluated the -195 (C->G) mutation by a functional in vitro assay based on the luciferase reporter gene system. The results indicated that the increased promoter activity observed in vivo could not be reproduced in vitro under the conditions employed, suggesting that other factors may be involved in the overexpression of the gamma-globin gene containing the -195 (C->G) mutation. Furthermore, this is the first time that the -195 (C->G) mutation of the Agamma-globin gene has been evaluated by in vitro... Tipo: Info:eu-repo/semantics/other Palavras-chave: Fetal hemoglobin; Hereditary persistence of fetal hemoglobin; HPFH; Transient expression. Ano: 2001 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2001000400008 Registros recuperados: 2 Primeira ... 1 ... Última

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