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Pesquisa : D12.776.124.400.434.325.500 [Categoria DeCS]
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Fotocópia
Id: lil-671828
Autor: Muñiz-Díaz, E; Oyonarte, S; Rodríguez-Villanueva, J; Parra, J; Santiago, J. C.
Título: Protocolo de consenso (SETS/SEGO) del diagnóstico y prevención de la enfermedad hemolítica del feto y del recién nacido (EHFRN) / Consensus protocol (SETS-SEGO) for the prevention and diagnosis of fetal and newborn haemolytic disease
Fonte: Rev. argent. transfus;36(1):51-58, 2010. tab, graf.
Idioma: es.
Descritores: Protocolos Clínicos
Eritroblastose Fetal/diagnóstico
Eritroblastose Fetal/epidemiologia
Eritroblastose Fetal/patologia
Eritroblastose Fetal/prevenção & controle
Eritroblastose Fetal/terapia
-Incompatibilidade de Grupos Sanguíneos
Transfusão de Sangue Intrauterina
Diagnóstico Pré-Natal/métodos
gama-Globinas/administração & dosagem
Incidência
Isoimunização Rh
Imunoglobulina rho(D)
Limites: Humanos
Feminino
Gravidez
Recém-Nascido
Responsável: AR1.1 - Biblioteca Rafael Herrera Vegas


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Id: lil-554960
Autor: Barbosa, C. G; Goncalves-Santos, N. J; Souza-Ribeiro, S. B; Moura-Neto, J. P; Takahashi, D; Silva, D. O; Hurtado-Guerrero, A. F; Reis, M. G; Goncalves, M. S.
Título: Promoter region sequence differences in the A and G gamma globin genes of Brazilian sickle cell anemia patients
Fonte: Braz. j. med. biol. res = Rev. bras. pesqui. méd. biol;43(8):705-711, Aug. 2010. tab.
Idioma: en.
Resumo: Fetal hemoglobin (HbF), encoded by the HBG2 and HBG1 genes, is the best-known genetic modulator of sickle cell anemia, varying dramatically in concentration in the blood of these patients. This variation is partially associated with polymorphisms located in the promoter region of the HBG2 and HBG1 genes. In order to explore known and unknown polymorphisms in these genes, the sequences of their promoter regions were screened in sickle cell anemia patients and correlated with both their HbF levels and their ƒÀS-globin haplotypes. Additionally, the sequences were compared with genes from 2 healthy groups, a reference one (N = 104) and an Afro-descendant one (N = 98), to identify polymorphisms linked to the ethnic background.The reference group was composed by healthy individuals from the general population. Four polymorphisms were identified in the promoter region of HBG2 and 8 in the promoter region of HBG1 among the studied groups. Four novel single nucleotide polymorphisms (SNP) located at positions -324, -317, -309 and -307 were identified in the reference group. A deletion located between -396 and -391 in the HBG2 promoter region and the SNP -271 C¨T in the HBG1 promoter region were associated with the Central African Republic ƒÀS-globin haplotype. In contrast, the -369 C¨G and 309 A¨G SNPs in the HBG2 promoter region were correlated to the Benin haplotype. The polymorphisms -396_-391 del HBG2, -369 SNP HBG2 and -271 SNP HBG1 correlated with HbF levels. Hence, we suggest an important role of HBG2 and HBG1 gene polymorphisms on the HbF synthesis.
Descritores: Anemia Falciforme/genética
Polimorfismo Genético/genética
Regiões Promotoras Genéticas/genética
gama-Globinas/genética
-Grupo com Ancestrais do Continente Africano
Anemia Falciforme/sangue
Brasil
Genótipo
Haplótipos
Limites: Idoso
Criança
Feminino
Humanos
Masculino
Tipo de Publ: Estudo Comparativo
Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME



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