RESUMEN
In order to determine the phenylketonuria (PKU) mutation spectrum in the population of Minas Gerais State, Brazil, 78 unrelated PKU patients found by the neonatal screening program from 1993 to 2003 were tested for nine phenylalanine hydroxylase mutations. These mutations were selected due to their high frequencies in other Brazilian populations and in Portugal, where the largest contingent of the Caucasian component of the Brazilian population originated from. The most frequent mutations were V388M (21%), R261Q (16%), IVS10nt11 (13.4%), I65T (5.7%), and R252W (5%). The frequencies of the other four mutations (R261X, R408W, Y414C, and IVS12nt1) did not reach 2%. By testing these nine mutations, we were able to identify 64% of the PKU alleles in our sample. V388M frequency was higher than in any other known population and almost three times larger than that observed in Portugal, probably reflecting genetic drift. The mutation profile, as well as the relative frequency of the different mutations, suggest that the Minas Gerais population more closely resembles that of Portugal than do the other Brazilian populations that have already been tested.
Asunto(s)
Humanos , Recién Nacido , Fenilalanina Hidroxilasa/genética , Fenilcetonurias/genética , Mutación/genética , Pruebas Genéticas , Brasil/epidemiología , Electroforesis en Gel de Poliacrilamida , Fenilcetonurias/epidemiología , Tamizaje NeonatalRESUMEN
The yeast two-hybrid system is a powerful tool for screening protein-protein interactions and has also been used for large-scale studies. We evaluated two protein-coding sequences as reporter genes for the yeast two-hybrid system, to determine if it was suitable as an alternative screening strategy. Aspergillus awamori glucoamylase activity results in clear haloes around colonies producing this enzyme after growth on starch plates and staining with iodine vapors. However, transcription activation by Gal4 on Gal-regulated promoters was insufficient for this type of phenotypic visualization. A modified gene of Aequoria victoria enhanced green fluorescent protein (EGFP) was tested to determine its suitability for interaction screenings with flow cytometry. When the EGFP reporter gene system was incorporated into the cells, Gal4 transcriptional activation produced sufficient fluorescence for detection with the flow cytometer, especially when there were strong interactions
Asunto(s)
Genes Reporteros , Levaduras/genética , Técnicas del Sistema de Dos Híbridos , Secuencia de Bases , Clonación Molecular , Citometría de Flujo , Datos de Secuencia Molecular , Proteínas Luminiscentes/análisis , Proteínas Luminiscentes/genética , Alineación de SecuenciaRESUMEN
1. Study of six patients with chronic calcifying pancreatitis (CCP) occurring over a 10 year period, representing an incidence rate of approximately 1:1,000 of the impatients in the children's ward of a general hospital in central Brazil, is reported. 2. Major clinical manifestations as well as therapeutic management are described. 3. The possible relationship between CCP and primary protein-calorie malnutrition is discussed and the importance of a CCP diagnosis when dealing malnourished children who do not respond satisfactorily to common therapy is emphasized
Asunto(s)
Preescolar , Niño , Humanos , Masculino , Femenino , Calcinosis/etiología , Pancreatitis/etiología , Desnutrición Proteico-Calórica/complicaciones , Enfermedad Crónica , Estado NutricionalRESUMEN
Neste trabalho sao feitas consideracoes sobre a doenca celiaca. Uma casuistica e apresentada, e a necessidade de se estabelecer criterios bem definidos da doenca e discutida. Enfatiza-se o risco de complicacoes que correm os celiacos em uso de gluten. Manifestacoes clinicas pouco comuns e outras menos evidentes sao abordadas no trabalho o efeito protetor do leite humano e enfatizado