583 research outputs found

    A genome-wide survey of segmental duplications that mediate common human genetic variation of chromosomal architecture.

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    Recent studies have identified a small number of genomic rearrangements that occur frequently in the general population. Bioinformatics tools are now available for systematic genome-wide surveys of higher-order structures predisposing to such common variations in genomic architecture. Segmental duplications (SDs) constitute up to 5 per cent of the genome and play an important role in generating additional rearrangements and in disease aetiology. We conducted a genome-wide database search for a form of SD, palindromic segmental duplications (PSDs), which consist of paired, inverted duplications, and which predispose to inversions, duplications and deletions. The survey was complemented by a search for SDs in tandem orientation (TSDs) that can mediate duplications and deletions but not inversions. We found more than 230 distinct loci with higher-order genomic structure that can mediate genomic variation, of these about 180 contained a PSD. A number of these sites were previously identified as harbouring common inversions or as being associated with specific genomic diseases characterised by duplication, deletions or inversions. Most of the regions, however, were previously unidentified; their characterisation should identify further common rearrangements and may indicate localisations for additional genomic disorders. The widespread distribution of complex chromosomal architecture suggests a potentially high degree of plasticity of the human genome and could uncover another level of genetic variation within human populations

    Evaluation of groundnut genotypes for field resistance to seed infection by Aspergillus flavus and to aflatoxin contamination: Report of Work Done During May 1988 - April 1989

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    Twenty-one groundnut genotypes reported resistant and susceptible to in vitro seed colonization by Aspergillus flavus were tested for field resistance to seed infection, particularly preharvest infection by the aflatoxigenic fungus, and for aflatoxin contamination....

    Diagnosis of hyperthyroidism by external liver counting : correlation between external scintillation counting of the liver and plasma protein-bound iodine<SUP>131</SUP>

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    External liver counting clearly distinguishes between euthyroid and hyperthyroid patients (t = 10.2); hyperthyroid and nontoxic goitre patients (t = 11.9). Individual values for these patients show a good separation between the groups. Correlation coefficient between liver counts and PBI131 in euthyroid and hyperthyroid patients was found to be 0.84 and correlation coefficient for hyperthyroid and nontoxic goitre patients was 0.76. The advantages of external liver counting as an alternative method to plasma PBI131 estimations are: (a) simplicity of the techniques; (b) no additional well scintillation assembly needed, and (c) no errors in results due to contamination of glassware, chemicals, etc(a) simplicity of the techniques; (b) no additional well scintillation assembly needed, and (c) no errors in results due to contamination of glassware, chemicals, et

    Investigating child participation in the everyday talk of a teacher and children in a preparatory year

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    In early years research, policy and education, a democratic perspective that positions children as participants and citizens is increasingly emphasized. These ideas take seriously listening to children’s opinions and respecting children’s influence over their everyday affairs. While much political and social investment has been paid to the inclusion of participatory approaches little has been reported on the practical achievement of such an approach in the day to day of early childhood education within school settings. This paper investigates talk and interaction in the everyday activities of a teacher and children in an Australian preparatory class (for children age 4-6 years) to see how ideas of child participation are experienced. We use an interactional analytic approach to demonstrate how participatory methods are employed in practical ways to manage routine interactions. Analysis shows that whilst the teacher seeks the children’s opinion and involves them in decision-making, child participation is at times constrained by the context and institutional categories of “teacher” and “student” that are jointly produced in their talk. The paper highlights tensions that arise for teachers as they balance a pedagogical intent of “teaching” and the associated institutional expectations, with efforts to engage children in decision-making. Recommendations include adopting a variety of conversational styles when engaging with children; consideration of temporal concerns and the need to acknowledge the culture of the school

    Field screening of groundnuts for resistance to seed infection by Aspergillus flavus

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    1107 genotypes d'arachide, au total, ont ete cribles pour l'infestation naturelle des graines par Aspergillus flavus dans des essais avec repetitions au champ au centre ICRISAT, a Patancheru, Inde, de 1984 a 1989. Par la suite, les plus interessants ont ete evalues pour leur resistance a l'infestation des graines au champ par A. flavus dans des essais de criblage plus pousses au centre ICRISAT et au Senegal pendant la saison des pluies et la saison seche de 1985 a 1990. Vingt-cinq genotypes se sont averes resistants a l'infestation des graines par A. flavus, dont 9 testes au Senegal ont egalement montre leur resistance dans des situations differentes. La resistance a l'infestation des graines au champ par A. flavus est restee stable dans toutes les situations. Une secheresse severe en fin de culture, surtout pendant la maturation des gousses, a joue un role important pour un bon criblage de la resistance. Certains genotypes sensibles a la colonisation in vitro des graines par A. flavus (Exotie 6, U4-7-5 et VRR 245) ont presente une resistance a l'infestation des graines au champ. Le rendement en gousse et la qualite commerciale de certains genotypes resistants au champ (55-437, J11, U4-7-5 et VRR 245) sont satisfaisants. L'interet d'une telle resistance est consider

    Content analysis, cultural grammars, and computers

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    This paper describes current theoretical work in a cognitive anthropological approach to the analysis of oral literature. A theory of narrative grammar is presented along with the description of a computer program, SAGE, that is currently under development. SAGE facilitates the labelling of clauses and sentences by different types of semantic features. It maps and counts the occurrences of these in the stories analyzed. © 1991 Human Sciences Press, Inc

    Aptamer-based multiplexed proteomic technology for biomarker discovery

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    Interrogation of the human proteome in a highly multiplexed and efficient manner remains a coveted and challenging goal in biology. We present a new aptamer-based proteomic technology for biomarker discovery capable of simultaneously measuring thousands of proteins from small sample volumes (15 [mu]L of serum or plasma). Our current assay allows us to measure ~800 proteins with very low limits of detection (1 pM average), 7 logs of overall dynamic range, and 5% average coefficient of variation. This technology is enabled by a new generation of aptamers that contain chemically modified nucleotides, which greatly expand the physicochemical diversity of the large randomized nucleic acid libraries from which the aptamers are selected. Proteins in complex matrices such as plasma are measured with a process that transforms a signature of protein concentrations into a corresponding DNA aptamer concentration signature, which is then quantified with a DNA microarray. In essence, our assay takes advantage of the dual nature of aptamers as both folded binding entities with defined shapes and unique sequences recognizable by specific hybridization probes. To demonstrate the utility of our proteomics biomarker discovery technology, we applied it to a clinical study of chronic kidney disease (CKD). We identified two well known CKD biomarkers as well as an additional 58 potential CKD biomarkers. These results demonstrate the potential utility of our technology to discover unique protein signatures characteristic of various disease states. More generally, we describe a versatile and powerful tool that allows large-scale comparison of proteome profiles among discrete populations. This unbiased and highly multiplexed search engine will enable the discovery of novel biomarkers in a manner that is unencumbered by our incomplete knowledge of biology, thereby helping to advance the next generation of evidence-based medicine
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