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1.
Sylviane Olschwang Richard Fabre Pierre Laurent-Puig Anne Vassal Bernard Hamelin Yusuke Nakamura Gilles Thomas 《Human genetics》1992,88(6):658-660
Summary The EF5.44 locus is in close proximity to the chromosome 5 region to which the genetic defect responsible for familial adenomatous polyposis has been mapped. We have devised two oligonucleotides that promote the specific polymerase chain reaction (PCR) amplificiation of a 365-bp sequence in this region. Analysis by denaturing gradient gel electrophoresis of the resulting fragment has unravelled individual differences that could be identified as a single base pair change in aMnlI restriction site. This PCR assayable polymorphism increases the informativeness at this locus, and should be useful in the presymptomatic diagnosis of familial adenomatous polyposis. 相似文献
2.
Characterization of a frequent polymorphism in the coding sequence of the Tp53 gene in colonic cancer patients and a control population 总被引:2,自引:0,他引:2
Sylviane Olschwang Pierre Laurent-Puig Anne Vassal Rémy-J. Salmon Gilles Thomas 《Human genetics》1991,86(4):369-370
Summary We describe a simple method for characterizing a frequent polymorphism (that subsitutes an arginine for a proline) in the coding sequence of the Tp53 gene in patients with colonic cancer and in a control population. We could find no evidence that this polymorphism is associated with a marked predisposition to colorectal cancer. 相似文献
3.
Identification of Glycolytic Enzyme Polypeptides on the Two-Dimensional Protein Map of Saccharomyces cerevisiae and Application to the Study of Some Wine Yeasts 下载免费PDF全文
Using a modification of the basic two-dimensional polyacrylamide gel electrophoresis technique, the polypeptides of the protein map of Saccharomyces cerevisiae involved in glycolysis were investigated. This study resulted in a reassignment of two of the seven glycolytic enzyme polypeptides previously identified (Ludwig et al., Mol. Cell. Biol. 2:117-126, 1982), those corresponding to phosphoglycerate kinase and to alcohol dehydrogenase. It also resulted in the identification of two additional glycolytic polypeptides, the enolase B monomer and the glyceraldehyde phosphate dehydrogenase B monomer. The glycolytic enzymes polypeptides so identified were investigated in 5 laboratory strains (all S. cerevisiae) and in 11 commerical strains used for wine making (S. cerevisiae and Saccharomyces bayanus). It appeared highly significant that a particular electrophoretic variant of the glyceraldehyde phosphate dehydrogenase B monomer was found only in the wine yeasts. Furthermore, it was strongly suggested that S. cerevisiae and S. bayanus strains are distinguishible on the basis of a different electrophoretic migration of the enolase B monomer. 相似文献
4.
Pierre Netter Sylviane Robineau Claire Lemaire 《Molecular & general genetics : MGG》1995,246(4):445-454
We have analysed the precise location of a large number (170) of mutations affecting the structural gene for subunit 1 of the cytochrome c oxidase complex. This gene, COXI, is 12.9 kb long and the major part of the sequence (i.e. 11.3 kb) is composed of introns. Several conclusions can be drawn from this study: (1) A significant proportion (84/170) of the mutations cannot be assigned to a single position within the gene by deletion mapping, in spite of clearly being located in it. These mutations are probably large deletions or multiple mutations. (2) Four mutants carry distant double mutations, which have been individually localized. (3) Eighty-two mutants have lesions that are restricted to very short regions of the gene and we therefore conclude that they are most probably due to single hits; amongst these single mutations, 41 are unambiguously located in exons and 28 in introns. This result implies that, at least in this particular split gene, the probability of selection of a mutant phenotype in an exon is, on the average, 13.3 times greater than in an intron, in spite of the existence, within most of these introns, of open reading frames specifying intronic proteins. The evolutionary significance and biological implications of these results are discussed. 相似文献
5.
Jacques Maclouf Sylviane Levy-Toledano Elisabeth Savariau Roger Hardisty Jacques P. Caen 《Prostaglandins & other lipid mediators》1984,28(3)
It is generally agreed that arachidonic acid (20:4ω6) can stimulate platelet aggregation after conversion to prostaglandin G2 and H2 and thence to thromboxane A2. This action is prevented by cyclooxygenase inhibitors. Washed platelets were isolated on metrizamide gradient and resuspended in a Ca2+-free buffer. Their stimulation by C 20:4 6 was followed by 14C serotonin (5HT) release, thromboxane (TX) synthesis and an increase of light transmission, not dependent on aggregation, accompanied by slight lysis (14%). The addition of extrinsic Ca2+ suppressed lysis and allowed the formation of aggregates. Under these conditions, cyclooxygenase inhibitors such as acetyl salicylic acid, indomethacin or flurbiprofen totally suppressed TX synthesis without preventing platelet aggregation or [14C]-5HT release. Other C 20 polyunsaturated fatty acids could not substituted for C 20:4ω6 in inducing aggregation, and Ca2+ was found to be a prerequesite for protection of the cell against lysis as well as for aggregation in the absence or TX formation. The use fo the lipoxygenase inhibitor BW 755 C did not prevent C 20:4ω6-induced aggregation of aspirin-treated platelets, suggesting that the phenomenon was independent of this pathway also. The total suppression of oxidative metabolism with these inhibitors was verified by the analysis of icosanoids using glass capillary column gas chromatography. It is suggested that under these condition, C 20:4ω6-induced platelet aggregation might be due to an increased membrane permeability to Ca2+ induced by this fatty acid in the absence of oxidation. 相似文献
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Peter J. H. Hulshof Martijn R. K. Mes Richard J. Boucherie Erwin W. Hans 《Flexible Services and Manufacturing Journal》2016,28(1-2):30-61
Tactical planning in hospitals involves elective patient admission planning and the allocation of hospital resource capacities. We propose a method to develop a tactical resource allocation and patient admission plan that takes stochastic elements into consideration, thereby providing robust plans. Our method is developed in an Approximate Dynamic Programming (ADP) framework and copes with multiple resources, multiple time periods and multiple patient groups with uncertain treatment paths and an uncertain number of arrivals in each time period. As such, the method enables integrated decision making for a network of hospital departments and resources. Computational results indicate that the ADP approach provides an accurate approximation of the value functions, and that it is suitable for large problem instances at hospitals, in which the ADP approach performs significantly better than two other heuristic approaches. Our ADP algorithm is generic, as various cost functions and basis functions can be used in various hospital settings. 相似文献
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