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991.
Nathalie Doerflinger Catherine Linder Karim Ouahchi Gabor Gyapay Jean Weissenbach Denis Le Paslier Philippe Rigault Samir Belal Christiane Ben Hamida Faycal Hentati Mongi Ben Hamida Massimo Pandolfo Stephano DiDonato Ronald Sokol Herbert Kayden Pierre Landrieu Alexandra Durr Alexis Brice Fran?oise Goutières Alfried Kohlschütter Pascal Sabouraud Ali Benomar Mohamed Yahyaoui Jean-Louis Mandel Michel Koenig 《American journal of human genetics》1995,56(5):1116-1124
Ataxia with vitamin E deficiency (AVED) is an autosomal recessive disease characterized clinically by neurological symptoms with often striking resemblance to those of Friedreich ataxia. This disorder has been reported previously as familial isolated vitamin E deficiency. We have mapped recently the AVED locus to a 5-cM confidence interval on chromosome 8q by homozygosity mapping in six Mediterranean families. We have now analyzed six new and two previously described families and demonstrate genetic homogeneity despite important clinical variability and wide geographic origins. Analysis of nine new tightly linked microsatellite markers, including four characterized in this study, revealed a predominant but not unique mutation in northern African populations, where this condition is more frequent. Haplotype analysis but also classical recombinations allowed us to refine the AVED position to a 1-cM interval. A YAC contig over this interval was constructed from marker STSs and YAC fingerprint data, in order to facilitate the search of the AVED gene. 相似文献
992.
Summary The behaviour of eleven Saintpaulia ionantha (H. Wendl.) genotypes in protoplast culture was compared. Isolation of protoplasts from young shootlets regenerated in vitro on leaf explants, yielded 0.7 to 1.8 × 106 protoplasts per gram fresh weight. In all cultivars and breeding lines tested, cell divisions were observed. The mean division frequencies varied between 1.0 and 5.0% after 14 days, and between 6.4 and 13.8% after 24 days of culture. In ten genotypes callussing and shoot regeneration were achieved. The difference between the genotypes in shoot regeneration rate, between 2 and 68%, was more pronounced. The comparison of four cytokinins indicated hat thidiazuron was most effective for shoot regeneration, but often resulted in poorer shoot quality than benzylaminopurine.Abbreviations BAP
(6-Benzylaminopurine)
- IAA
(In-dole-3-acetic acid)
- NAA
(-Naphthaleneacetic acid)
- TDZ
(Thidiazuron = 1-Phenyl-3-(1,2,3-thiadiazol-5-yl)-urea)
- 2iP
(6-(,-dimethylallylamino)-purine) 相似文献
993.
Most depth recorders used to study the diving behaviour of polar marine endotherms record depth data at specific time intervals. The length of recording interval can have potentially profound implications for the interpretation of the data. We used data acquired on the diving behaviour of king penguins, Aptenodytes patagonicus, to examine the validity of various analyses routinely conducted on depth data. In our experiments, increasing the sampling interval led to an underestimation of the number of dives performed, an overestimation in mean dive duration and substantial changes in the form of the dive profile. Our analysis indicates that depth data should be recorded at a minimum rate corresponding to 10% of the total dive duration and that conventional dive profile categorization may be inappropriate. Alternatives that are less subjective, and based on curve fits of dive depth versus time, are proposed. 相似文献
994.
Coated membranes and vesicles play an important role in receptor-mediated endocytosis and intracellular trafficking in various cell types, and are also present in blood platelets. Platelets take up certain proteins from the blood plasma, such as von Willebrand factor and fibrinogen, and these substances are transferred to storage granules. The receptors for these plasma proteins on the platelet plasma membrane have been well characterized, but morphological evidence for their transport to the storage granules is not yet available. In an attempt to clarify this aspect, we employed postembedding immunocytochemistry on platelets embedded in the acrylic resin LR White. Clathrin as the major coat component of coated vesicles was localized in the cytoplasm, on the plasmic faces of -granules and the open canalicular system, and on the plasmic face of the plasma membrane. Colocalizations of the adhesive proteins, von Willebrand factor, fibrinogen and fibronectin, with clathrin could be observed at the same typical locations as coated vesicles were seen in Araldite-embedded material. These colocalizations have not been reported to date and furnish further evidence for a coated vesicle-mediated transport of blood plasma-derived adhesive proteins from their receptors on the outer plasma membrane to the -granules. 相似文献
995.
The strictly anaerobic homoacetogenic bacteria Acetobacterium woodii and Sporomusa sphaeroides differ with respect to their energy metabolism. Since growth as well as acetate and ATP formation of A. woodii is strictly dependent on Na+, but that of S. sphaeroides is not, the question arose whether these organisms also use different coupling ions for mechanical work, i.e. flagellar rotation.
During growth on fructose in the presence of Na+ (50 mM), cells of A. woodii were vigorously motile, as judged by light microscopy. At low Na+ concentrations (0.3 mM), the growth rate decreased by only 15%, but the cells were completely non-motile. Addition of Na+ to such cultures restored motility instantaneously. Motility, as determined in swarm agar tubes, was strictly dependent on
Na+; Li+, but not K+ partly substituted for Na+. Of the amilorides tested, phenamil proved to be a specific inhibitor of the flagellar motor of A. woodii. Growth and motility of S. sphaeroides was neither dependent on Na+ nor inhibited by amiloride derivatives. These results indicate that flagellar rotation is driven by ΔμNa
+ in A. woodii, but by ΔμH
+ in S. sphaeroides.
Received: 30 May 1995 / Accepted: 31 August 1995 相似文献
996.
Hideyuki Takahashi Mitsuharu Inaki Koichi Fujimoto Shigeru Katsuta Izumi Anno Mamoru Nütsu Yuji Itai 《European journal of applied physiology and occupational physiology》1995,71(5):396-404
We examined the effect of differences in exercise intensity on the time constant (t
c) of phosphocreatine (PCr) resynthesis after exercise and the relationships betweent
c and maximal oxygen uptake (VO2max) in endurance-trained runners (n = 5) and untrained controls (n = 7) (average VO2max = 66.2 and 52.0 ml · min–1 · kg–1, respectively). To measure the metabolism of the quadriceps muscle using phosphorus nuclear magnetic resonance spectroscopy, we developed a device which allowed knee extension exercise inside a magnet. All the subjects performed four types of exercise: light, moderate, severe and exhausting. The end-exercise PCr: [PCr + inorganic phosphate (Pi)] ratio decreased significantly with the increase in the exercise intensity (P < 0.01). Although there was little difference in the end-exercise pH, adenosine diphosphate concentration ([ADP]) and the lowest intracellular pH during recovery between light and moderate exercise, significant changes were found at the two higher intensities (P < 0.01). These changes for runners were smaller than those for the controls (P < 0.05). The
c remained constant after light and moderate exercise and then lengthened in proportion to the increase in intensity (P < 0.05). The runners had a lowert
c at the same PCr and pH than the controls, particularly at the higher intensity (P < 0.05). There was a significant correlation betweent
c and [ADP] in light exercise and betweent
c and both end-exercise PCr and pH in severe and exhausting exercise (P < 0.05). The threshold of changes in pH andt
c was a PCr: (PCr + Pi) ratio of 0.5. There was a significant negative correlation between the VO2max andt
c after all levels of exercise (P<0.05).However, in the controls a significant correlation was found in only light and moderate exercise (P < 0.05). These findings suggest the validity of the use oft
c at an end-exercise PCr:(PCr + Pi) ratio of more than 0.5 as a stable index of muscle oxidative capacity and the correlation between local and general aerobic capacity. Moreover, endurance-trained runners are characterized by the faster PCr resynthesis at the same PCr and intracellular pH. 相似文献
997.
Four cases of Crouzon syndrome, one familial and three sporadic, were investigated for mutations in exon B of the fibroblast growth factor receptor 2 (FGFR2) gene. In the familial case, a mutation was found at codon 340 that exchanged tyrosine for histidine. Mutations at codon 342, detected in the three sporadic cases, replaced a cysteine by another amino acid. While three of the mutations have been described before, the fourth mutation, a CG transversion at codon 342 in one of the sporadic cases, has not been recognized previously. Compilation of all exon B mutations in Crouzon syndrome described to date revealed that 6 of the 8 sporadic and 2 of the 9 familial cases have mutations in codon 342. These mutations caused the substitution of cysteine for another amino acid. Given that a mutation in codon 342 was found in 8 out of 17 cases and that in 9 cases the mutation occurred at five additional positions, codon 342 of exon B of the FGFR2 gene may be predisposed to mutations in Crouzon syndrome. 相似文献
998.
Alice Abd El-Aleem Ingolf Böhm Samia Temtamy Mostafa El-Awady Mohamed Awadalla Jörg Schmidtke Manfred Stuhrmann 《Human genetics》1995,96(5):577-584
Molecular genetic analysis of individuals from 6 Egyptian and 33 German families with fragile X syndrome and 240 further patients with mental retardation was performed applying a completely non-radioactive system. The aim of our study was the development of a non-radioactive detection method and its implementation in molecular diagnosis of the fragile X syndrome. Furthermore, we wanted to assess differences in the mutation sizes between Egyptian and German patients and between Egyptian and German carriers of a premutation. Using non-radioactive polymerase chain reaction (PCR), agarose gel electrophoresis and blotting of the PCR products, followed by hybridisation with a digoxigenin-labelled oligonucleotide probe (CGG)5 and chemiluminescent detection, we identified the fragile X full mutation (amplification of a CGG repeat in the FMR-1 gene ranging from several hundred to several thousand repeat units) in all patients. We observed no differences in the length of the CGG repeat between the Egyptian and German patients and carriers, respectively. However, in one prenatal diagnosis, we detected only one normal sized allele in a female fetus using the PCR-agarose assay, whereas Southern blot analysis with the digoxigenin labelled probe StB 12.3 revealed presence of a full mutation. Our newly established nonradioactive genomic blotting method is based on the conventional radioactive Southern blot analysis. Labelling of the probe StB 12.3 with digoxigenin via PCR allowed the detection of normal, premutated and fully mutated alleles. For exact sizing of small premutated or large normal alleles, we separated digoxigenin labelled PCR products through denaturing poly-acrylamide gelelectrophoresis (PAGE) and transfered them to a nylon membrane using a gel dryer. The blotted PCR-fragments can easily be detected with alkaline phosphate-labelled anti-digoxigenin antibody. The number of trinucleotide repeat units can be determined by scoring the detected bands against a digoxigenated M13 sequencing ladder. Our newly developed digoxigenin/chemiluminescence approach using PCR and Southern blot analysis provides reliable results for routine detection of full fragile X mutations and premutations. 相似文献
999.
Many theories of human stereovision are based on feature matching and
the related correspondence problem. In this paper, we present
psychophysical experiments indicating that localized image features
such as Laplacian zerocrossings, intensity extrema, or centroids are
not necessary for binocular depth perception. Smooth one-dimensional
intensity profiles were combined into stereograms with
mirror-symmetric half-images such that these localized image features
were either absent or did not carry stereo information. In a
discrimination task, subjects were asked to distinguish between
stereograms differing only by an exchange of these half-images (ortho-
vs. pseudoscopic stereograms). In a depth ordering task, subjects had
to judge which of the two versions appeared in front. Subjects are
able to solve both tasks even in the absence of the mentioned image
features. The performance is compared to various possible stereo
mechanisms. We conclude that localized image features and the
correspondences between them are not necessary to perceive
stereoscopic depth. One mechanism accounting for our data is
correlation or mean square difference.
Received: 8 February 1994 / Accepted in revised form: 15
September
1994 相似文献
1000.
The ant’s path integration system: a neural architecture 总被引:3,自引:0,他引:3
A model is developed by which path integration as observed in many animal species could be implemented neurobiologically.
The proposed architecture is able to describe the navigation behaviour of Cataglyphis ants, and that of other social insects, at the level of interacting neurons. The basic idea of this architecture is the concept
of activity patterns travelling along neural chains. Although experimental evidence has yet to be provided, this concept seems
biologically plausible and not limited to the navigation problem. Neural chains are able to represent variables by activity
patterns with high accuracy and temporal stability. Moreover, they are able to integrate incremental signals with high precision.
Cyclical chains of neurons show superior performance as soon as cyclical variables are to be represented and integrated. Finally,
representation of cyclical variables by travelling activity peaks allows simple approximations of goniometric functions as
they are used in path integration systems.
Received: 15 November 1994/Accepted in revised form: 30 May 1995 相似文献