Base de dados : LILACS
Pesquisa : D08.244.187 [Categoria DeCS]
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Id: lil-501714
Autor: Villalobos, Federico; Valerio, Alejandro A; Retana, Axel P.
Título: A phylogeny of howler monkeys (Cebidae: Alouatta) based on mitochondrial, chromosomal and morphological data
Fonte: Rev. biol. trop;52(3):665-677, sept. 2004. tab, ilus.
Idioma: en.
Resumo: The current taxonomic status of the species and subspecies belonging to the genus Alouatta is addressed by combined phylogenetic analysis using morphological, kariotipyc and molecular data (mitochondrial genes cytocrome oxidase II and cytochrome B). Our result demonstrated that Alouatta palliata is the most basal taxon for the genus in concordance with previous studies, as well as showing the validity of the taxon Alouatta sara as a species. Also our analysis shows that the sex chromosome has evolved from a XY/XX system to a X1X2Y1Y2/X1X1X2X2 system within the genus, as well as an increase in the size and complexity of the hioideal bone.
Descritores: Alouatta/genética
Cromossomos Sexuais/genética
DNA Mitocondrial/genética
Filogenia
-Alouatta/anatomia & histologia
Alouatta/classificação
Complexo IV da Cadeia de Transporte de Elétrons/genética
Evolução Molecular
Grupo dos Citocromos b/genética
Cariotipagem
Alinhamento de Sequência
Limites: Animais
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME


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Id: lil-357541
Autor: Agudelo-Flórez, P; López, J. A; Redher, J; Carneiro-Sampaio, M. M. S; Costa-Carvalho, B. T; Grumach, A. S; Condino-Neto, A.
Título: The use of reverse transcription-PCR for the diagnosis of X-linked chronic granulomatous disease
Fonte: Braz. j. med. biol. res = Rev. bras. pesqui. méd. biol;37(5):625-634, May 2004. ilus, tab, graf.
Idioma: en.
Projeto: FAPESP; . CNPq; . CAPES; . United States. National Institutes of Health Fogarty International Center.
Resumo: Chronic granulomatous disease (CGD) is an inherited disorder of the innate immune system characterized by a defective oxidative burst of phagocytes and subsequent impairment of their microbicidal activity. Mutations in one of the NADPH-oxidase components affect gene expression or function of this system, leading to the phenotype of CGD. Defects in gp91-phox lead to X-linked CGD, responsible for approximately 70 percent of CGD cases. Investigation of the highly heterogeneous genotype of CGD patients includes mutation analysis, Northern blot or Western blot assays according to the particular case. The aim of the present study was to use reverse transcription (RT)-PCR for the analysis of molecular defects responsible for X-linked CGD in eight Brazilian patients and to assess its potential for broader application to molecular screening in CGD. Total RNA was prepared from Epstein B virus-transformed B-lymphocytes and reverse transcribed using random hexamers. The resulting cDNA was PCR-amplified by specific and overlapping pairs of primers designed to amplify three regions of the gp91-phox gene: exons 1-5, 3-9, and 7-13. This strategy detected defective gp91-phox expression in seven patients. The RT-PCR results matched clinical history, biochemical data (nitroblue tetrazolium or superoxide release assay) and available mutation analysis in four cases. In three additional cases, RT-PCR results matched clinical history and biochemical data. In another case, RT-PCR was normal despite a clinical history compatible with CGD and defective respiratory burst. We conclude that this new application of RT-PCR analysis - a simple, economical and rapid method - was appropriate for screening molecular defects in 7 of 8 X-linked CGD patients.
Descritores: Cromossomos Humanos X
Grupo dos Citocromos b
Doença Granulomatosa Crônica
Reação em Cadeia da Polimerase Via Transcriptase Reversa
-Análise Mutacional de DNA
Ligação Genética
Marcadores Genéticos
Mutação Puntual
Limites: Humanos
Masculino
Pré-Escolar
Criança
Responsável: BR1.1 - BIREME



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