101 resultados para premembrane and envelope gene junction

em Repositório Institucional UNESP - Universidade Estadual Paulista "Julio de Mesquita Filho"


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In this report, we present a boy with lower lip pits, distinct craniofacial dysmorphism with cleft lip and palate, central nervous system malformation, and severe mental retardation. Similar but less pronounced facial findings were present in his mentally normal mother and maternal grandfather, both presenting with lower lip pits. Cleft lip was present in patient's father. Analysis of the VWS1 and VWS2 regions were performed to elucidate the molecular basis of the phenotype of the propositus. Screening or mutations at the IRF6 gene detected a pathogenic mutation (c.960G > C) in the propositus and in his mother; and a single nucleotide polymorphism (c.175-5C > G) in the propositus and in his father. Clinical and genetic aspects of this case are discussed.

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Molecular biology techniques are of help in genetic improvement since they permit the identification, mapping and analysis of polymorphisms of genes encoding proteins that act on metabolic pathways involved in economically interesting traits. The somatotrophic axis, which essentially consists of growth hormone releasing hormone (GHRH), growth hormone (GH), insulin-like growth factors I and II (IGF-I and IGF-II), and their associated binding proteins and receptors (GHRHR, GHR, IGF-IR and IGF-IIR), plays a key role in the metabolism and physiology of mammalian growth. The objectives of the present study were to estimate the allele and genotype frequencies of the IGF-I/SnaBI, IGF-IR/TaqI and GHRH/HaeIII gene polymorphisms in different genetic groups of beef cattle and to determine associations between these polymorphisms and growth and carcass traits. For this purpose, genotyping was performed on 79 Nellore animals, 30 Canchim (5/8 Charolais+3/8 Zebu) animals and 275 crossbred cattle originating from the crosses of Simmental (n=30) and Angus (n=245) sires with Nellore females. In the association studies, traits of interest were analyzed using the GLM procedure of SAS and least square means of the genotypes were compared by the Tukey test. Associations of IGF-I/SnaBI genotypes with body weight and subcutaneous backfat were significant (p < 0.05), and nearly significant for longissimus dorsi area (p=0.06), with the 1313 genotype being favorable compared to the AB genotype. No significant associations were observed between this polymorphism and weight gain or carcass yield (P > 0.05). The IGF-IR/TaqI and GHRH/HaeIII polymorphisms showed no association with production traits. (c) 2004 Elsevier B.V All rights reserved.

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The Richieri-Costa-Pereira syndrome is a rare autosomal recessive disorder characterized by short stature, Robin sequence, cleft mandible, pre/postaxial anomalies and clubfoot. of 15 families reported with this disorder 14 are from Brazil suggesting a founder effect. We studied 15 families using identity-by-descent as a hypothesis to attempt gene localization We have examined through linkage analysis 497 polymorphicmarkers and also performed direct sequencing of exons for 10 candidate genes selected on the basis of their expression in the developing mandible and limb. No evidence for allele sharing at any locus tested or mutations in candidate genes was found. Additional higher resolution mapping, new families and other candidate genes might improve future chances of gene identification. (C) 2003 Wiley-Liss, Inc.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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