977 resultados para CHROMOSOME 11Q13 AMPLIFICATION


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This paper was a study to examine the effect of bandlimiting on speech intelligibility.

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Although some children with unilateral hearing loss (UHL) are at-risk for educational difficulties and behavioral problems, research in treatment outcomes for pediatric UHL is limited. The objective of this study was to examine the benefits of a conventional hearing aid in children with mild to moderately severe UHL, using speech perception measures and subjective assessments from the child, parent, and teacher.

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Climate models suggest that extreme precipitation events will become more common in an anthropogenically warmed climate. However, observational limitations have hindered a direct evaluation of model-projected changes in extreme precipitation. We used satellite observations and model simulations to examine the response of tropical precipitation events to naturally driven changes in surface temperature and atmospheric moisture content. These observations reveal a distinct link between rainfall extremes and temperature, with heavy rain events increasing during warm periods and decreasing during cold periods. Furthermore, the observed amplification of rainfall extremes is found to be larger than that predicted by models, implying that projections of future changes in rainfall extremes in response to anthropogenic global warming may be underestimated.

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Baroclinic wave development is investigated for unstable parallel shear flows in the limit of vanishing normal-mode growth rate. This development is described in terms of the propagation and interaction mechanisms of two coherent structures, called counter-propagating Rossby waves (CRWs). It is shown that, in this limit of vanishing normal-mode growth rate, arbitrary initial conditions produce sustained linear amplification of the marginally neutral normal mode (mNM). This linear excitation of the mNM is subsequently interpreted in terms of a resonance phenomenon. Moreover, while the mathematical character of the normal-mode problem changes abruptly as the bifurcation point in the dispersion diagram is encountered and crossed, it is shown that from an initial-value viewpoint, this transition is smooth. Consequently, the resonance interpretation remains relevant (albeit for a finite time) for wavenumbers slightly different from the ones defining cut-off points. The results are further applied to a two-layer version of the classic Eady model in which the upper rigid lid has been replaced by a simple stratosphere.

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Mean platelet volume (MPV) and platelet count (PLT) are highly heritable and tightly regulated traits. We performed a genome-wide association study for MPV and identified one SNP, rs342293, as having highly significant and reproducible association with MPV (per-G allele effect 0.016 +/- 0.001 log fL; P < 1.08 x 10(-24)) and PLT (per-G effect -4.55 +/- 0.80 10(9)/L; P < 7.19 x 10(-8)) in 8586 healthy subjects. Whole-genome expression analysis in the 1-MB region showed a significant association with platelet transcript levels for PIK3CG (n = 35; P = .047). The G allele at rs342293 was also associated with decreased binding of annexin V to platelets activated with collagen-related peptide (n = 84; P = .003). The region 7q22.3 identifies the first QTL influencing platelet volume, counts, and function in healthy subjects. Notably, the association signal maps to a chromosome region implicated in myeloid malignancies, indicating this site as an important regulatory site for hematopoiesis. The identification of loci regulating MPV by this and other studies will increase our insight in the processes of megakaryopoiesis and proplatelet formation, and it may aid the identification of genes that are somatically mutated in essential thrombocytosis. (Blood. 2009; 113: 3831-3837)

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Twenty-eight microsatellite primer pairs developed from Fragaria vesca ‘Rügen’ were applied to sixteen accessions representing eight diploid Fragaria species. The number of alleles generated, the power of discrimination and the percentage of accessions where no PCR product could be amplified were calculated for each locus for the thirteen non-F. vesca accessions. A phylogeny was then generated for the species accessions sampled, using the presence or absence of alleles at the polymorphic loci as character states. Despite the problems inherent in phylogeny reconstruction from microsatellite data, the phylogeny showed some congruence with a previously published phylogeny of Fragaria, based on nucleotide sequence data. However, relationships inferred from microsatellite allele data were relatively unresolved and poorly supported. The genetic basis of allelic polymorphisms at specific loci was investigated through direct sequencing of the PCR products amplified by three primer pairs. The potential utility of sequence data generated from microsatellite loci in evolutionary studies of closely related species groups is briefly explored.

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A mechanism for amplification of mountain waves, and their associated drag, by parametric resonance is investigated using linear theory and numerical simulations. This mechanism, which is active when the Scorer parameter oscillates with height, was recently classified by previous authors as intrinsically nonlinear. Here it is shown that, if friction is included in the simplest possible form as a Rayleigh damping, and the solution to the Taylor-Goldstein equation is expanded in a power series of the amplitude of the Scorer parameter oscillation, linear theory can replicate the resonant amplification produced by numerical simulations with some accuracy. The drag is significantly altered by resonance in the vicinity of n/l_0 = 2, where l_0 is the unperturbed value of the Scorer parameter and n is the wave number of its oscillation. Depending on the phase of this oscillation, the drag may be substantially amplified or attenuated relative to its non-resonant value, displaying either single maxima or minima, or double extrema near n/l_0 = 2. Both non-hydrostatic effects and friction tend to reduce the magnitude of the drag extrema. However, in exactly inviscid conditions, the single drag maximum and minimum are suppressed. As in the atmosphere friction is often small but non-zero outside the boundary layer, modelling of the drag amplification mechanism addressed here should be quite sensitive to the type of turbulence closure employed in numerical models, or to computational dissipation in nominally inviscid simulations.

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We report here the construction and characterisation of a BAC library from the maize flint inbred line F2, widely used in European maize breeding programs. The library contains 86,858 clones with an average insert size of approximately 90 kb, giving approximately 3.2-times genome coverage. High-efficiency BAC cloning was achieved through the use of a single size selection for the high-molecular-weight genomic DNA, and co-transformation of the ligation with yeast tRNA to optimise transformation efficiency. Characterisation of the library showed that less than 0.5% of the clones contained no inserts, while 5.52% of clones consisted of chloroplast DNA. The library was gridded onto 29 nylon filters in a double-spotted 8 × 8 array, and screened by hybridisation with a number of single-copy and gene-family probes. A 3-dimensional DNA pooling scheme was used to allow rapid PCR screening of the library based on primer pairs from simple sequence repeat (SSR) and expressed sequence tag (EST) markers. Positive clones were obtained in all hybridisation and PCR screens carried out so far. Six BAC clones, which hybridised to a portion of the cloned Rp1-D rust resistance gene, were further characterised and found to form contigs covering most of this complex resistance locus.

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Mathematical ability is heritable, but few studies have directly investigated its molecular genetic basis. Here we aimed to identify specific genetic contributions to variation in mathematical ability. We carried out a genome wide association scan using pooled DNA in two groups of U.K. samples, based on end of secondary/high school national academic exam achievement: high (n = 419) versus low (n = 183) mathematical ability while controlling for their verbal ability. Significant differences in allele frequencies between these groups were searched for in 906,600 SNPs using the Affymetrix GeneChip Human Mapping version 6.0 array. After meeting a threshold of p<1.5×10-5, 12 SNPs from the pooled association analysis were individually genotyped in 542 of the participants and analyzed to validate the initial associations (lowest p-value 1.14 ×10-6). In this analysis, one of the SNPs (rs789859) showed significant association after Bonferroni correction, and four (rs10873824, rs4144887, rs12130910 rs2809115) were nominally significant (lowest p-value 3.278 × 10-4). Three of the SNPs of interest are located within, or near to, known genes (FAM43A, SFT2D1, C14orf64). The SNP that showed the strongest association, rs789859, is located in a region on chromosome 3q29 that has been previously linked to learning difficulties and autism. rs789859 lies 1.3 kbp downstream of LSG1, and 700 bp upstream of FAM43A, mapping within the potential promoter/regulatory region of the latter. To our knowledge, this is only the second study to investigate the association of genetic variants with mathematical ability, and it highlights a number of interesting markers for future study.

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A new method to detect the vibrational circular dichroism (VCD) of a localized part of a chiral molecular system is reported. A local VCD amplifier was implemented, and the distance dependence of the amplification was investigated in a series of peptides. The results indicate a characteristic distance of 2.0±0.3 bonds, which suggests that the amplification is a localized phenomenon. The amplifier can be covalently coupled to a specific part of a molecule, and can be switched ON and OFF electrochemically. By subtracting the VCD spectra obtained when the amplifier is in the ON and OFF states, the VCD of the local environment of the amplifier can be separated from the total VCD spectrum. Switchable local VCD amplification thus makes it possible to “zoom in” on a specific part of a chiral molecule.

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Climate change is amplified in the Arctic region. Arctic amplification has been found in past warm1 and glacial2 periods, as well as in historical observations3, 4 and climate model experiments5, 6. Feedback effects associated with temperature, water vapour and clouds have been suggested to contribute to amplified warming in the Arctic, but the surface albedo feedback—the increase in surface absorption of solar radiation when snow and ice retreat—is often cited as the main contributor7, 8, 9, 10. However, Arctic amplification is also found in models without changes in snow and ice cover11, 12. Here we analyse climate model simulations from the Coupled Model Intercomparison Project Phase 5 archive to quantify the contributions of the various feedbacks. We find that in the simulations, the largest contribution to Arctic amplification comes from a temperature feedbacks: as the surface warms, more energy is radiated back to space in low latitudes, compared with the Arctic. This effect can be attributed to both the different vertical structure of the warming in high and low latitudes, and a smaller increase in emitted blackbody radiation per unit warming at colder temperatures. We find that the surface albedo feedback is the second main contributor to Arctic amplification and that other contributions are substantially smaller or even opposeArctic amplification.