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	Provedor de dados Genet. Mol. Biol. (3) Autor Moura Neto,José Pereira de (3) Barbosa,Cynara Gomes (2) Barreto,José Henrique (2) Gonçalves,Marilda Souza (2) Reis,Mitermayer Galvão (2) Souza,Claudio Lima (2) Arruda,Maria da Glória Bomfim (1) Dourado,Marcos Vinícius (1) Goncalves,Marilda Souza (1) Reis,Mitermayer Galvão dos (1) Mais... Palavra-chave AML (1) Acute promyelocytic leukemia (1) CML (1) Chronic myeloid leukemia (1) G6PD mutations (1) GSTM1 (1) GSTT1 (1) Gene polymorphism (1) Glucose-6-phosphate dehydrogenase deficiency (1) MTHFR polymorphisms (1) Neonatal screening (1) Mais... Tipo do documento Info:eu-repo/semantics/other (3) Ano 2008 (3) País Brazil (3) Idioma Inglês (3)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 3 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 Polymorphisms in the glutathione S-transferase theta and mu genes and susceptibility to myeloid leukemia in Brazilian patients Genet. Mol. Biol. Souza,Claudio Lima; Barbosa,Cynara Gomes; Moura Neto,José Pereira de; Barreto,José Henrique; Reis,Mitermayer Galvão; Gonçalves,Marilda Souza. The null genotype for glutathione S-transferase (GST, EC 2.5.1.18) gene polymorphisms is considered a risk factor for leukemia in different populations. In this work we investigated the GSTT1 and GSTM1 polymorphisms using multiplex PCR in 53 patients with chronic myeloid leukemia (CML), 23 with acute promyelocytic leukemia (APL) and 304 apparently healthy controls. In this association study we found that the GSTT1null genotype was more frequent in our group of APL patients than in the control group [OR = 2.75 (95% CI = 1.10-6.88)], providing evidence that a deletion in the GSTT1 gene could be a risk factor for this type of leukemia. Tipo: Info:eu-repo/semantics/other Palavras-chave: Acute promyelocytic leukemia; Chronic myeloid leukemia; GSTM1; GSTT1; Gene polymorphism. Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000100008 Methylenetetrahydrofolate reductase polymorphisms in myeloid leukemia patients from Northeastern Brazil Genet. Mol. Biol. Barbosa,Cynara Gomes; Souza,Claudio Lima; Moura Neto,José Pereira de; Arruda,Maria da Glória Bomfim; Barreto,José Henrique; Reis,Mitermayer Galvão; Goncalves,Marilda Souza. Methylenetetrahydrofolate reductase (MTHFR: EC 1.5.1.20) polymorphisms are associated to acute lymphoid leukemia in different populations. We used the polymerase chain reaction and the restriction fragment length polymorphism method (PCR-RFLP) to investigate MTHFR C677T and A1298C polymorphism frequencies in 67 patients with chronic myeloid leukemia (CML), 27 with acute myeloid leukemia FAB subtype M3 (AML-M3) and 100 apparently healthy controls. The MTHFR mutant allele frequencies were as follows: CML = 17.2% for C677T, 21.6% for A1298C; AML-M3 = 22.2% for C677T, 24.1% for A1298C; and controls = 20.5% for C677T, 21% for A1298C. Taken together, our results provide evidence that MTHFR polymorphisms have no influence on the development of CML or AML-M3. Tipo: Info:eu-repo/semantics/other Palavras-chave: AML; CML; MTHFR polymorphisms. Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000100005 Registros recuperados: 3 Primeira ... 1 ... Última

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