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	Provedor de dados BJMBR (1) Genet. Mol. Biol. (1) Autor Andrade,T.G. de (1) Blanco,Zorella (1) Costa,F.F. (1) Fattori,A. (1) Hackshaw,Patrick (1) Martínez,José A. (1) Moreno,Nancy (1) Osorio,Leidys (1) Saad,S.T.O. (1) Sonati,M.F. (1) Mais... Palavra-chave Sickle cell (2) Beta-globin gene cluster (1) Globin genes (1) Haplotypes (1) Hereditary persistence of fetal hemoglobin (1) Sicilian thalassemia (1) Thalassemia (1) Mais... Tipo do documento Info:eu-repo/semantics/article (1) Info:eu-repo/semantics/other (1) Ano 2002 (2) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Beta-globin gene cluster haplotypes in Venezuelan sickle cell patients from the State of Aragua Genet. Mol. Biol. Moreno,Nancy; Martínez,José A.; Blanco,Zorella; Osorio,Leidys; Hackshaw,Patrick. Seven polymorphic sites in the beta-globin gene cluster were analyzed on a sample of 96 chromosomes of Venezuelan sickle cell patients from the State of Aragua. The Benin haplotype was predominant with a frequency of 0.479, followed by the Bantu haplotype (0.406); a minority of cases with other haplotypes was also identified: atypical Bantu A2 (0.042), Senegal (0.031), atypical Bantu A7 (0.021) and Saudi Arabia/Indian (0.021) haplotypes; however, the Cameroon haplotype was not identified in this study. Our results are in agreement with the historical records that establish Sudanese and Bantu origins for the African slaves brought into Venezuela. Tipo: Info:eu-repo/semantics/article Palavras-chave: Haplotypes; Beta-globin gene cluster; Sickle cell. Ano: 2002 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000100005 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 Registros recuperados: 2 Primeira ... 1 ... Última

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