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1.
Kringen P Egedal S Pedersen JC Harbitz TB Tveit KM Berg K Børresen-Dale AL Andersen TI 《Electrophoresis》2002,23(24):4085-4091
Efficient mutation scanning techniques are needed for the rapid detection of novel disease-associated mutations and rare-sequence variants of putative importance. The large size of the breast cancer 1 gene (BRCA1) and the many mutations found throughout its entire coding sequence make screening for mutations in this gene particularly challenging. We have developed a method for screening exon 11 of the BRCA1 gene based on restriction enzyme digestion of fluorescence-labeled polymerase chain reaction (PCR) products followed by single-strand conformation polymorphism (SSCP) using an automated capillary electrophoresis system, denoted capillary restriction endonuclease fingerprinting (REF)-SSCP electrophoresis. Using this strategy on a control set of samples, we were able to detect 17 of 18 known sequence alterations. The method was then applied to screen 73 Norwegian females with family histories of breast and/or ovarian cancer. A total of 172 sequence alterations were detected, including substitutions, insertions, and deletions. One novel substitution of unknown function was identified. Sequencing of all samples negative in the capillary REF-SSCP system gave no additional mutations confirming the high sensitivity of the described methodology. Capillary REF-SSCP electrophoresis appeared as a technically convenient technique, requiring amplification of fewer PCR fragments than traditional SSCP. The novel strategy allows high-throughput mutation scanning without radioactive labeling and polyacrylamide gel electrophoresis (PAGE). 相似文献
2.
Jacopo La Nasa Marco Zanaboni Daniele Uldanck Ilaria Degano Francesca Modugno Hartmut Kutzke Eva Storevik Tveit Biljana Topalova-Casadiego Maria Perla Colombini 《Analytica chimica acta》2015
Modern oil paints, introduced at the beginning of the 20th century, differ from those classically used in antiquity in their chemical and compositional features. The main ingredients were still traditional drying oils, often used in mixtures with less expensive oils and added with several classes of additives. Consequently, detailed lipid profiling, together with the study of lipid degradation processes, is essential for the knowledge and the conservation of paint materials used in modern and contemporary art. 相似文献
3.
Particle induced X-ray emission analysis (PIXE) and nuclear reaction analysis have been applied to multielemental analysis
of human dental enamel in a proton microprobe. The PIXE technique was excercised for the characterization of multielemental
lateral distributions on and just below the sample surface. For the assessment of depth distributions of fluorine the resonant
nuclear reaction19F(p,aλ)16O was used. The combination of two analytical techniques comprising both atomic and nuclear interactions in a microprobe was
applied to enamel samples of different origins. One sample constituted a healthy enamel and the other one enamel from a restored
tooth. The microprobe in the combined mode was demonstrated to permit the establishment of lateral, concentration gradients
of elements heavier than phosphorus with a resolution of 15 μm in enamel and simultaneously of depth distributions of fluorine
better than 0.7 μm. The detection limits approached, 10–25 ppm for most of the elements considered.
Supported by the Swedish Natural Science Research Council 相似文献
4.
KM Varier AM Vinodkumar NVSV Prasad PV Madhusudhana Rao DL Sastry Lagy T Baby MC Radhakrishna NG Puttaswamy JJ Das P Sugathan N Madhavan AK Sinha DO Kataria 《Pramana》1999,53(3):529-533
Large enhancements have been observed in the sub-barrier fusion cross sections for Ti+Ni systems in our previous studies.
Coupled channel calculations incorporating couplings to 2+ and 3− states failed to explain these enhancements completely. A possibilty of transfer channels contributing to the residual enhancements
had been suggested. In order to investigate the role of relevant transfer channels, measurements of one- and two-nucleon transfer
were carried out for 46,48Ti+61Ni systems. The present paper gives the results of these studies. 相似文献
5.
Tzu-Chia Chen Mahyuddin KM Nasution Abdullah Hasan Jabbar Sarah Jawad Shoja Waluyo Adi Siswanto Sigiet Haryo Pranoto Dmitry Bokov Rustem Magizov Yasser Fakri Mustafa A. Surendar Rustem Zalilov Alexandr Sviderskiy Alla Vorobeva Dmitry Vorobyev and Ahmed Alkhayyat 《中国物理 B》2022,31(9):96401-096401
Understanding the relation between spatial heterogeneity and structural rejuvenation is one of the hottest topics in the field of metallic glasses (MGs). In this work, molecular dynamics (MD) simulation is implemented to discover the effects of initial spatial heterogeneity on the level of rejuvenation in the Ni$_{80}$P$_{20 }$MGs. For this purpose, the samples are prepared with cooling rates of $10^{10}$ K/s-$10^{12}$ K/s to make glassy alloys with different atomic configurations. Firstly, it is found that the increase in the cooling rate leads the Gaussian-type shear modulus distribution to widen, indicating the aggregations in both elastically soft and hard regions. After the primary evaluations, the elastostatic loading is also used to transform structural rejuvenation into the atomic configurations. The results indicate that the sample with intermediate structural heterogeneity prepared with 10$^{11}$ K/s exhibits the maximum structural rejuvenation which is due to the fact that the atomic configuration in an intermediate structure contains more potential sites for generating the maximum atomic rearrangement and loosely packed regions under an external excitation. The features of atomic rearrangement and structural changes under the rejuvenation process are discussed in detail. 相似文献
6.
A host-guest optical sensor for the determination of aliphatic amines as exemplified by octylamine is proposed. It is based on the reversible fluorescence enhancement of heptakis(2,6-di-O-isobutyl)-β-cyclodextrin(DOB-β-CD) hosting tetraphenylporphyrin (TPP) immobilized in poly(vinyl chloride) (PVC) membrane by aliphatic amine extracted from aqueous phase into membrane phase. The optimum membrane contained 1.15 wt % TPP, 6.15 wt % DOB-β-CD as sensing reagent and other membrane materials. The fluorescence enhancement of the membrane resulted from the formation of a stable three-component complex among DOB-β-CD, TPP, and aliphatic amines. With the optimum conditions described, the fluorescence response of the sensor to octylamine shows a good correlation with the theoretically derived equation in the range 1.0 × 10–6 to 8.0 × 10–4 mol/L. The response characteristics including reversibility, response time, reproducibility and lifetime and selectivity of this optical device are also discussed in detail. This sensor has also been applied for the determination of octylamine in water samples containing interferents with satisfactory recovery. 相似文献
7.
KM Clauwaert Van Bocxlaer JF HJ Major JA Claereboudt WE Lambert Van den Eeckhout EM Van Peteghem CH De Leenheer AP 《Rapid communications in mass spectrometry : RCM》1999,13(14):1540-1545
This paper describes the investigation of the potential of a quadrupole orthogonal acceleration time-of-flight mass spectrometer (Q-TOF) equipped with an atmospheric pressure ionisation interface for quantitative measurements of small molecules separated by reversed phase liquid chromatography. To this end, the detection limits and linear dynamic range in particular were studied in an LC/MS/MS experiment using 3,4-methylenedioxymethamphetamine standards and 3,4-methylenedioxyethylamphetamine for internal standardisation. In a second phase, the experiment was repeated with real biological extracts (whole blood, serum, and vitreous humour). A calibration for 3,4-methylenedioxymethamphetamine and its metabolite 3,4-methylenedioxyamphetamine was prepared in each of these matrices again using 3,4-methylenedioxyethylamphetamine as internal standard. The resulting quantitative data were compared with those obtained by liquid chromatography with fluorescence detection for the same extracts. The Q-TOF results revealed excellent sensitivity and a linear dynamic range of nearly four decades (2-10 000 pg on-column, r(2) = 0.9998, 1/x weighting). Furthermore, all the calibration curves prepared in biological material were superimposable, LC/MS/MS and LC-fluorescence, and the quantitative results for actual samples compared very favourably. It was concluded that the Q-TOF achieves a linear dynamic range for quantitative LC/MS/MS work exceeding that of fluorescence detection and at much better absolute sensitivity. Copyright 1999 John Wiley & Sons, Ltd. 相似文献
8.
The effects on the radiation response of Harwell polymethylmethacrylate (PMMA) dosimeters of dose-rate, radiation type, temperature during irradiation and post-irradiation storage, and post-irradiation stability, are of importance to the operators of commercial irradiation facilities.
This paper describes recent studies of the effects of some of these parameters on the radiation response of Harwell Red 4034, Amber 3042, and Gammachrome YR Perspex dosimeters, and provides data on batch to batch variation and shelf-life. 相似文献
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10.
n.O.e. difference spectra reveal that the preferred solution conformation of methyl enol ethers has the methyl group -periplanar to the double bond; n.O.e kinetics in a methoxy—heptatriene demonstrate the presence of both possible periplanar conformations, the energy difference being 1 kcal/mole. 相似文献