304 resultados para Mutation detection


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Resonance Raman spectroscopy is a powerful analytical tool for detecting and identifying analytes, but the associated strong fluorescence background severely limits the use of the technique. Here, we show that by attaching beta-cyclodextrin (beta-CD) cavities to reduced graphene-oxide (rGO) sheets we obtain a water dispersible material (beta-CD: rGO) that combines the hydrophobicity associated with rGO with that of the cyclodextrin cavities and provides a versatile platform for resonance Raman detection. Planar aromatic and dye molecules that adsorb on the rGO domains and nonplanar molecules included within the tethered beta-CD cavities have their fluorescence effectively quenched. We show that it is possible using the water dispersible beta-CD: rGO sheets to record the resonance Raman spectra of adsorbed and included organic chromophores directly in aqueous media without having to extract or deposit on a substrate. This is significant, as it allows us to identify and estimate organic analytes present in water by resonance Raman spectroscopy.

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We consider nonparametric or universal sequential hypothesis testing when the distribution under the null hypothesis is fully known but the alternate hypothesis corresponds to some other unknown distribution. These algorithms are primarily motivated from spectrum sensing in Cognitive Radios and intruder detection in wireless sensor networks. We use easily implementable universal lossless source codes to propose simple algorithms for such a setup. The algorithms are first proposed for discrete alphabet. Their performance and asymptotic properties are studied theoretically. Later these are extended to continuous alphabets. Their performance with two well known universal source codes, Lempel-Ziv code and KT-estimator with Arithmetic Encoder are compared. These algorithms are also compared with the tests using various other nonparametric estimators. Finally a decentralized version utilizing spatial diversity is also proposed and analysed.

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Moving shadow detection and removal from the extracted foreground regions of video frames, aim to limit the risk of misconsideration of moving shadows as a part of moving objects. This operation thus enhances the rate of accuracy in detection and classification of moving objects. With a similar reasoning, the present paper proposes an efficient method for the discrimination of moving object and moving shadow regions in a video sequence, with no human intervention. Also, it requires less computational burden and works effectively under dynamic traffic road conditions on highways (with and without marking lines), street ways (with and without marking lines). Further, we have used scale-invariant feature transform-based features for the classification of moving vehicles (with and without shadow regions), which enhances the effectiveness of the proposed method. The potentiality of the method is tested with various data sets collected from different road traffic scenarios, and its superiority is compared with the existing methods. (C) 2013 Elsevier GmbH. All rights reserved.

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Purpose: Congenital hereditary endothelial dystrophy 2 (CHED2) is an autosomal recessive disorder caused by mutations in the solute carrier family 4, sodium borate transporter, member 11 (SLC4A11) gene. The purpose of this study was to identify the genetic cause of CHED2 in six Indian families and catalog all known mutations in the SLC4A11 gene. Methods: Peripheral blood samples were collected from individuals of the families with CHED2 and used in genomic DNA isolation. PCR primers were used to amplify the entire coding region including intron-exon junctions of SLC4A11. Amplicons were subsequently sequenced to identify the mutations. Results: DNA sequence analysis of the six families identified four novel (viz., p.Thr262Ile, p.Gly417Arg, p.Cys611Arg, and p.His724Asp) mutations and one known p.Arg869His homozygous mutation in the SLC4A11 gene. The mutation p.Gly417Arg was identified in two families. Conclusions: This study increases the mutation spectrum of the SLC4A11 gene. A review of the literature showed that the total number of mutations in the SLC4A11 gene described to date is 78. Most of the mutations are missense, followed by insertions-deletions. The present study will be helpful in genetic diagnosis of the families reported here.

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Four ``V'' shaped 1,8-naphthalimides (1-4) have been synthesized and their fluorescence quantum-yields correlated to their molecular flexibility. The correlation was used for detection of Hg(II) via a chemodosimetric approach. 4 was found to be an AIE active molecule with the formation of fluorescent nanoaggregates.

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We report a blood pressure evaluation methodology by recording the radial arterial pulse waveform in real time using a fiber Bragg grating pulse device (FBGPD). Here, the pressure responses of the arterial pulse in the form of beat-to-beat pulse amplitude and arterial diametrical variations are monitored. Particularly, the unique signatures of pulse pressure variations have been recorded in the arterial pulse waveform, which indicate the systolic and diastolic blood pressure while the patient is subjected to the sphygmomanometric blood pressure examination. The proposed method of blood pressure evaluation using FBGPD has been validated with the auscultatory method of detecting the acoustic pulses (Korotkoff sounds) by an electronic stethoscope. (C) 2013 Society of Photo-Optical Instrumentation Engineers (SPIE)

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Wavelet coefficients based on spatial wavelets are used as damage indicators to identify the damage location as well as the size of the damage in a laminated composite beam with localized matrix cracks. A finite element model of the composite beam is used in conjunction with a matrix crack based damage model to simulate the damaged composite beam structure. The modes of vibration of the beam are analyzed using the wavelet transform in order to identify the location and the extent of the damage by sensing the local perturbations at the damage locations. The location of the damage is identified by a sudden change in spatial distribution of wavelet coefficients. Monte Carlo Simulations (MCS) are used to investigate the effect of ply level uncertainty in composite material properties such as ply longitudinal stiffness, transverse stiffness, shear modulus and Poisson's ratio on damage detection parameter, wavelet coefficient. In this study, numerical simulations are done for single and multiple damage cases. It is observed that spatial wavelets can be used as a reliable damage detection tool for composite beams with localized matrix cracks which can result from low velocity impact damage.

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Efficient photon detection in gaseous photomultipliers require maximum photoelectron yield from the photocathode surface and also detection of them. In this work we have investigated the parameters that affect the photoelectron yield from the photocathode surface and methods to improve them thus ensuring high detection efficiency of the gaseous photomultiplier. The parameters studied are the electric field at the photocathode surface, surface properties of photocathode and pressure of gas mixture inside the gaseous photomultiplier. It was observed that optimized electric field at the photocathode ensures high detection efficiency. Lower pressure of filled gas increases the photoelectron yield from the photocathode surface but reduces the focusing probability of electrons inside the electron multiplier. Also evacuation for longer duration before gas filling increases the photoelectron yield.

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Tumor-suppressor protein p53, the `guardian of the genome', is critical in maintaining cellular homeostasis and genomic stability. Earlier, we have reported the discovery of internal ribosome entry sites (IRESs) within the p53 mRNA that regulate the translation of the full length and its N-terminal-truncated isoform, Delta N-p53. Polypyrimidine tract-binding protein (PTB) is an IRES trans-acting factor that positively regulates the IRES activities of both p53 isoforms by relocating from nucleus to the cytoplasm during stress conditions. Here we have demonstrated the putative contact points of PTB on the p53 IRES RNA. Studies on mutations that occur naturally in the 5' untranslated region (5' UTR) in p53 mRNA were lacking. We have investigated a naturally occurring C-to-T single-nucleotide polymorphism (SNP) first reported in human melanoma tumors. This SNP is at position 119 in the 5' UTR of p53 mRNA and we demonstrate that it has consequences on the translational control of p53. Introduction of this SNP has led to decrease in cap-independent translation from p53 5' UTR in bicistronic reporter assay. Further, the effects of this SNP on cap-independent translation have been studied in the context of p53 cDNA as well. Interestingly, the 5' UTR with this SNP has shown reduced binding to PTB that can be corroborated to its weaker IRES activity. Previously, it has been shown that G2-M checkpoint, DNA-damaging stress and oncogenic insult favor IRES-mediated translation. Under similar conditions, we demonstrate that this SNP interferes with the enhancement of the IRES activity of the 5' UTR. Taken together, the results demonstrate for the first time that SNP in the 5' UTR of the p53 mRNA might have a role in translational control of this critical tumor-suppressor gene.

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Trypanosoma evansi is the most extensively distributed trypanosome responsible for disease called surra in livestock in many countries including frequent outbreaks in India. The prevalence of this disease is most commonly reported by standard parasitological detection methods (SPDM); however, antibody ELISA is being in practice by locally produced whole cell lysate (WCL) antigens in many countries. In the present investigation, we attempted to identify and purify immuno dominant, infection specific trypanosome antigens from T. evansi proteome using experimentally infected equine serum by immuno blot. Three immuno dominant clusters of proteins i.e. 62-66 kDa, 52-55 kDa and 41-43 kDa were identified based on their consistent reactivity with donkey sequential serum experimentally infected T. evansi up to 280 days post infection (dpi). The protein cluster of 62-66 kDa was purified in bulk in native form and comparatively evaluated with whole cell lysate antigen (WCL). ELISA and immuno blot showed that polypeptide of this cluster is 100% sensitive in detection of early and chronic infection. Further, this protein cluster was also found immuno reactive against hyper immune serum raised against predominantly 66 kDa exo antigen, revealed that this is a common immunodominant moieties in proteome and secretome of T. evansi.

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This paper presents the formulation and performance analysis of four techniques for detection of a narrowband acoustic source in a shallow range-independent ocean using an acoustic vector sensor (AVS) array. The array signal vector is not known due to the unknown location of the source. Hence all detectors are based on a generalized likelihood ratio test (GLRT) which involves estimation of the array signal vector. One non-parametric and three parametric (model-based) signal estimators are presented. It is shown that there is a strong correlation between the detector performance and the mean-square signal estimation error. Theoretical expressions for probability of false alarm and probability of detection are derived for all the detectors, and the theoretical predictions are compared with simulation results. It is shown that the detection performance of an AVS array with a certain number of sensors is equal to or slightly better than that of a conventional acoustic pressure sensor array with thrice as many sensors.

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We develop several novel signal detection algorithms for two-dimensional intersymbol-interference channels. The contribution of the paper is two-fold: (1) We extend the one-dimensional maximum a-posteriori (MAP) detection algorithm to operate over multiple rows and columns in an iterative manner. We study the performance vs. complexity trade-offs for various algorithmic options ranging from single row/column non-iterative detection to a multi-row/column iterative scheme and analyze the performance of the algorithm. (2) We develop a self-iterating 2-D linear minimum mean-squared based equalizer by extending the 1-D linear equalizer framework, and present an analysis of the algorithm. The iterative multi-row/column detector and the self-iterating equalizer are further connected together within a turbo framework. We analyze the combined 2-D iterative equalization and detection engine through analysis and simulations. The performance of the overall equalizer and detector is near MAP estimate with tractable complexity, and beats the Marrow Wolf detector by about at least 0.8 dB over certain 2-D ISI channels. The coded performance indicates about 8 dB of significant SNR gain over the uncoded 2-D equalizer-detector system.

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A wave propagation based approach for the detection of damage in components of structures having periodic damage has been proposed. Periodic damage pattern may arise in a structure due to periodicity in geometry and in loading. The method exploits the Block-Floquet band formation mechanism, a feature specific to structures with periodicity, to identify propagation bands (pass bands) and attenuation bands (stop bands) at different frequency ranges. The presence of damage modifies the wave propagation behaviour forming these bands. With proper positioning of sensors a damage force indicator (DFI) method can be used to locate the defect at an accuracy level of sensor to sensor distance. A wide range of transducer frequency may be used to obtain further information about the shape and size of the damage. The methodology is demonstrated using a few 1-D structures with different kinds of periodicity and damage. For this purpose, dynamic stiffness matrix is formed for the periodic elements to obtain the dispersion relationship using frequency domain spectral element and spectral super element method. The sensitivity of the damage force indicator for different types of periodic damages is also analysed.

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Detection of petroleum leakages in pipelines and storage tanks is a very important as it may lead to significant pollution of the environment, accidental hazards, and also it is a very important fuel resource. Petroleum leakage detection sensor based on fiber optics was fabricated by etching the fiber Bragg grating (FBG) to a region where the total internal reflection is affected. The experiment shows that the reflected Bragg's wavelength and intensity goes to zero when etched FBG is in air and recovers Bragg's wavelength and intensity when it is comes in contact with petroleum or any external fluid. This acts as high sensitive, fast response fluid optical switch in liquid level sensing, petroleum leakage detection etc. In this paper we present our results on using this technique in petroleum leakage detection.

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Single-stranded DNA (ssDNA) is a prerequisite for electrochemical sensor-based detection of parasite DNA and other diagnostic applications. To achieve this detection, an asymmetric polymerase chain reaction method was optimised. This method facilitates amplification of ssDNA from the human lymphatic filarial parasite Wuchereria bancrofti. This procedure produced ssDNA fragments of 188 bp in a single step when primer pairs (forward and reverse) were used at a 100:1 molar ratio in the presence of double-stranded template DNA. The ssDNA thus produced was suitable for immobilisation as probe onto the surface of an Indium tin oxide electrode and hybridisation in a system for sequence-specific electrochemical detection of W. bancrofti. The hybridisation of the ssDNA probe and target ssDNA led to considerable decreases in both the anodic and the cathodic currents of the system's redox couple compared with the unhybridised DNA and could be detected via cyclic voltammetry. This method is reproducible and avoids many of the difficulties encountered by conventional methods of filarial parasite DNA detection; thus, it has potential in xenomonitoring.