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	Provedor de dados Genet. Mol. Biol. (3) Autor Gonçalves,Marilda Souza (3) Moura Neto,José Pereira de (2) Reis,Mitermayer Galvão (2) Adorno,Elisângela Vitória (1) Barbosa,Cynara Gomes (1) Barreto,José Henrique (1) Dourado,Marcos Vinícius (1) Lyra,Isa (1) Reis,Mitermayer Galvão dos (1) Seixas,Magda Oliveira (1) Souza,Claudio Lima (1) Zanette,Ângela (1) Mais... Palavra-chave Acute promyelocytic leukemia (1) Alpha-thalassemia 2 gene 3.7 kb deletion (-α23.7 kb thal) (1) Chronic myeloid leukemia (1) Fetal hemoglobin (1) G6PD mutations (1) GSTM1 (1) GSTT1 (1) Gene polymorphism (1) Glucose-6-phosphate dehydrogenase deficiency (1) Neonatal screening (1) ΒS-globin gene haplotypes (1) Mais... Tipo do documento Info:eu-repo/semantics/other (2) Info:eu-repo/semantics/article (1) 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 Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil Genet. Mol. Biol. Adorno,Elisângela Vitória; Zanette,Ângela; Lyra,Isa; Seixas,Magda Oliveira; Reis,Mitermayer Galvão; Gonçalves,Marilda Souza. Beta S-globin gene (βS-globin) haplotypes, markers for severe sickle cell anemia (SCA), and the alpha-thalassemia 2 gene 3.7 kb deletion (-α2(3.7 kb) thal) along with demographic and clinical data were investigated in SCA outpatients (n = 125, 63 female and 62 male) in the Brazilian state of Bahia, which has a high prevalence SCA. PCR-RFLP showed that the Central African Republic/Benin (CAR/BEN, 51.2%) haplotype was most frequent, followed by the Benin/Benin (Ben/Ben, 28.8%). At least one CAR haplotype was present in every outpatient with a history of cerebrovascular accident. The Cameroon (Cam), Senegal (Sen) and Arab-India haplotypes occurred in small numbers, as did atypical haplotypes. Fetal hemoglobin (HbF, %) was unevenly distributed. Compared to... Tipo: Info:eu-repo/semantics/article Palavras-chave: Alpha-thalassemia 2 gene 3.7 kb deletion (-α23.7 kb thal); ΒS-globin gene haplotypes; Fetal hemoglobin. Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000400003 Registros recuperados: 3 Primeira ... 1 ... Última

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