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	Provedor de dados Genet. Mol. Biol. (2) Autor Andrade,Gabriela Barreto (1) Costa,Greice de Lemos Cardoso (1) Dourado,Marcos Vinícius (1) Gaia,Karoline Coelho (1) Gonçalves,Marilda Souza (1) Guerreiro,João Farias (1) Moura Neto,José Pereira de (1) Oliveira,Haiala S. Silva de (1) Reis,Mitermayer Galvão dos (1) Santos,Ândrea K. Campos Ribeiro dos (1) Silva,Aylla N. Lima Martins da (1) Mais... Palavra-chave G6PD mutations (2) Afro-descendants (1) Brazilian Amazon (1) Duffy blood group (1) Glucose-6-phosphate dehydrogenase deficiency (1) Neonatal screening (1) Mais... Tipo do documento Info:eu-repo/semantics/article (1) Info:eu-repo/semantics/other (1) Ano 2018 (1) 2008 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última A novel c.197T ® A variant among Brazilian neonates with glucose-6-phosphate dehydrogenase deficiency Genet. Mol. Biol. Moura Neto,José Pereira de; Dourado,Marcos Vinícius; Reis,Mitermayer Galvão dos; Gonçalves,Marilda Souza. Glucose-6-phosphate dehydrogenase (G6PD, EC 1.1.1.49) deficiency is the most common enzyme deficiency worldwide, causing a spectrum of diseases including neonatal hyperbilirubinemia and acute or chronic hemolysis. We used the methemoglobin reduction test and G6PD electrophoresis to screen 655 neonates (354 females and 301 males) for common G6PD mutations in the city of Salvador in the Northeastern Brazilian state Bahia and found that 66 (10.1%) were G6PD-deficient (41 females and 25 males). The 66 (10.1%) G6PD-deficient neonates were assessed for the c.376 A -> G (exon 5) and c.202 G -> A (exon 4) mutations using the polymerase chain reaction and restriction enzyme fragment length polymorphism (PCR-RFLP) analysis and the results validated by DNA... Tipo: Info:eu-repo/semantics/other Palavras-chave: Glucose-6-phosphate dehydrogenase deficiency; G6PD mutations; Neonatal screening. Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000100006 Molecular genotyping of G6PD mutations and Duffy blood group in Afro-descendant communities from Brazilian Amazon Genet. Mol. Biol. Oliveira,Haiala S. Silva de; Silva,Aylla N. Lima Martins da; Andrade,Gabriela Barreto; Gaia,Karoline Coelho; Costa,Greice de Lemos Cardoso; Santos,Ândrea K. Campos Ribeiro dos; Guerreiro,João Farias. Abstract Glucose-6-phosphate dehydrogenase deficiency (G6PDd) and Duffy-negative blood group are two red blood cells variants that confer protection against malaria. In this study, the distribution of the most common G6PD variants (G6PD*A-, GGPD*A and G6PD Mediterranean) and the major alleles of the Duffy blood group (FY*A, FY*B and FY*BES) were investigated in an Afro-descendant population from state of Pará, Brazilian Amazon. G6PD variants and Duffy blood group alleles were determined by TaqMan SNP genotyping assay. Overall, molecular genotyping revealed the presence of G6PD variants in 126 (24%) of the individuals studied (5% male and 19% female), and frequencies of the G6PD*A- and G6PD*A alleles were 0.061 and 0.104, respectively. Duffy blood group... Tipo: Info:eu-repo/semantics/article Palavras-chave: G6PD mutations; Duffy blood group; Afro-descendants; Brazilian Amazon. Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500758 Registros recuperados: 2 Primeira ... 1 ... Última

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