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21.
Haplotype studies support slippage as the mechanism of germline mutations in short tandem repeats 总被引:1,自引:0,他引:1
Klintschar M Dauber EM Ricci U Cerri N Immel UD Kleiber M Mayr WR 《Electrophoresis》2004,25(20):3344-3348
Germline mutations of human short tandem repeat (STR) loci are expansions or contractions of repeat arrays which are not well understood in terms of the mechanism(s) underlying such mutations. Although polymerase slippage is generally accepted as a mechanism capable to explain most features of such mutations, it is still possible that unequal crossing over plays some role in those events, as most studies in humans could not exclude unequal crossing over (UCO). Crossing over can be studied by analyzing haplotypes using flanking markers. To check for UCO in mutations, we have analyzed 150 paternity cases for which more than the usual trio (mother, child, and father) were available for testing by analyzing 16 STR loci. In a total of 4900 parent-child allele transfers four mutations were observed at different loci (D8S1179, D18S51, D21S11, and SE33/ACTBP2). To identify the mutated allele and to check for UCO, we typed at least four informative loci flanking the mutated locus and used the pedigree data to establish haplotypes. By doing so we were able to exclude UCO in each case. Moreover, we were able to identify the mutations as one-repeat contractions/expansions. Our data thus support slippage as the mechanism of germline mutations in STRs. 相似文献
22.
α-Acetoxy acid methyl esters are prepared in excellent yields by treating aliphatic α-acetoxy dimethyl acetals with trichloroisocyanuric acid in DMF. 相似文献
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24.
A Wiener-type condition for the continuity at the boundary points of Q-minima, is established, in terms of the divergence of a suitable Wiener integral. 相似文献
25.
This review deals with recent advances in bioelectroanalytical applications of nanostructured electrodes, in particular nanoelectrode ensembles (NEEs) and arrays (NEAs). First, nanofabrication techniques, principles of function, and specific advantages and limits of NEEs and NEAs are critically discussed. In the second part, some recent examples of bioelectroanalytical applications are presented. These include use of nanoelectrode arrays and/or ensembles for direct electrochemical analysis of pharmacologically active organic compounds or redox proteins, and the development of functionalized nanoelectrode systems and their use as catalytic or affinity electrochemical biosensors. 相似文献
26.
Ugo Bussy Illa Tea Véronique Ferchaud-Roucher Michel Krempf Virginie Silvestre Nicolas Galland Denis Jacquemin Moa Andresen-Bergström Ulrik Jurva Mohammed Boujtita 《Analytica chimica acta》2013
The coupling between an electrochemical cell (EC) and a mass spectrometer (MS) is a useful screening tool (EC-MS) to study the oxidative transformation pathways of various electroactive species. For that purpose, we showed that the EC-MS method, carried out in the presence and absence of isotope 18O labeled water leads not only to a fast identification of oxidation products but also leads to a fast elucidation of the mechanism pathway reaction. We examined herein the case of the electrochemical hydrolysis of activated aromatic ether. Acebutolol (β-blockers) was selected herein as model of activated aromatic ether, and its electrochemical oxidation was examined in both the presence and absence of isotope 18O labeled water. To elucidate electrochemical hydrolysis pathway reaction: O-dealkylation or O-dealkoxylation, our approach was used to prove its applicability. The electrochemical oxidation mechanism was then elucidated showing an O-dealkoxylation reaction. In addition, density functional theory (DFT) calculations fully support the experimental conclusions. 相似文献
27.
The integration of constriction structures such as nanopores and nanochannels into fluidic devices discloses powerful biosensing capabilities that can be tuned to a wide range of analytes through conceptually simple size calibrations. The practical implementation of this tuning requires a nontrivial manipulation of matter at nanoscale with further requirements for low complexity and low-cost procedures that may be adapted to industrial production. Here, we review the recent progress on the fabrication techniques of nanopores and nanochannels, together with the efforts to realize their full biosensing potential by understanding and amending the problems still afflicting the measurement performed during operation. 相似文献
28.
Ugo Authesserre Sophie Hameury Aymeric Dajnak Nathalie Saffon-Merceron Antoine Baceiredo David Madec Eddy Maerten 《Molecules (Basel, Switzerland)》2021,26(7)
Due to their remarkable electronic features, recent years have witnessed the emergence of carbones L2C, which consist in two donating L ligands coordinating a central carbon atom bearing two lone pairs. In this context, the phosphine/sulfoxide-supported carbone 4 exhibits a strong nucleophilic character, and here, we describe its ability to coordinate dichlorogermylene. Two original stable coordination complexes were obtained and fully characterized in solution and in the solid state by NMR spectroscopy and X-ray diffraction analysis, respectively. At 60 °C, in the presence of 4, the Ge(II)-complex 5 undergoes a slow isomerization that transforms the bis-ylide ligand into an yldiide. 相似文献
29.
Juliano Fiorelli Catarina Abdala Gomide Francisco Antonio Rocco Lahr Maria Fátima do Nascimento Diogo de Lucca Sartori Julian Eduardo Mejia Ballesteros Stephen Bonila Bueno Ugo Leandro Belini 《Cellulose (London, England)》2014,21(5):3269-3277
Anatomical and physico-chemical properties of residual natural fibers (sugarcane bagasse, coconut fibers and peanut hulls) were characterized in order to evaluate their potential for use in the production of particleboard. The bulk density was determined by helium pycnometer and the chemical characteristics by using an electronic pH meter (for pH determination) on fibers dissolved in acidic and neutral detergents (to determine the levels of cellulose, hemicellulose and lignin). The anatomical characteristics were established using scanning electron microscopy coupled with an X-ray detector system, as well as energy dispersive X-ray spectroscopy. Results indicated similarities and differences between physico-chemical and anatomical characteristics of the residual lignocellulosic fibers when compared with the Pinus sp. wood commercially employed in particleboard production. Bulk density and pH for residual lignocellulosic fibers and Pinus sp. wood presented analogous values. Similar amounts of cellulose and lignin were identified between waste fibers and Pinus sp. wood. The presence of silica was identified in coconut fiber, peanut hull and sugarcane bagasse waste fibers, and may affect the mechanical characteristics of panels. Coconut and sugarcane bagasse fibers show surface pores with diameters ranging from 1.2 to 2.1 μm, below the 5 μm identified for Pinus sp. wood. Both fibers present pores distributed over their entire surface, whereas peanut hull fibers have no pores on their surface. This characteristic contributes to resin dispersion among particles, reflecting positively on the physical–mechanical properties of the panels. Particleboards produced with residual lignocellulosic fibers present similar physical–mechanical properties to those of Pinus sp. wood panels. 相似文献
30.