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91.
A Vincent  D Heitz  C Petit  C Kretz  I Oberlé  J L Mandel 《Nature》1991,349(6310):624-626
The fragile-X syndrome is the most frequent inherited form of mental retardation, with an incidence of 1 in 1,500 males. It is characterized by the presence of a fragile site at Xq27.3 induced in vitro by folate deprivation or by inhibitors of deoxynucleotide synthesis. Its mode of inheritance is unusual for an X-linked trait, with incomplete penetrance in both males and females. Some phenotypically normal males transmit the mutation to all their daughters who rarely express any symptoms, but penetrance is high in sons and daughters of these carrier women. Genetic and physical mapping of the Xq27-q28 region has confirmed that the disease locus is located at or very near the fragile site. Hypotheses proposed to account for the abnormalities in the inheritance of the disease include sequence rearrangements by meiotic recombination or a mutation that affects reactivation of an inactive X chromosome during differentiation of female germ cells. To detect such rearrangements, or methylation changes that may reflect a locally inactive X chromosome, we used pulsed-field gel analysis of DNA from fragile-X patients with probes close to the fragile-X locus. The probe Do33 (DXS465) detected abnormal patterns in fragile-X patients, but not in normal controls or in non-expressing male transmitters.  相似文献   
92.
通过混沌系统的形式的抽象,提出了一种间接自适应模糊控制方法来控制一类具有未知非线性函数的混沌系统跟踪一参考轨迹.  相似文献   
93.
介绍了国内外矫直技术与矫直设备的发展水平与方向 ,在简要介绍中厚板矫直机理的基础上 ,指出了目前我国中厚板矫直技术存在的一些差距与不足 ,为我国中厚板矫直设备的改造提供了一定的参考依据。  相似文献   
94.
In the determination of the attitude parameters from a multi-antenna GPS array, one of the major assumptions is that the body frame is rigid at all times. If this assumption is not true then the derived attitude parameters will be in error. It is well known that in airborne platforms the wings often experience some displacement during flight, especially during periods of initializing maneouvres, such as taking off, landing,and banking. Often it is at these points in time that it is most critical to have the most precise attitude parameters.There are a number of techniques available for the detection of modeling errors.The CUSUM algorithm has successfully been implemented in the past to detect small persistent changes. In this paper the authors investigate different methods of generating the residuals, to be tested by the CUSUM algorithm, in an effort to determine which technique is best suited for the detection of structural deformation of an airborne platform. The methods investigated include monitoring the mean of the residuals generated from the difference between the known body frame coordinates, and those calculated from the derived attitude parameters. The generated residuals are then passed to a CUSUM algorithm to detect any small persistent changes. An alternative method involves transforming the generated residuals into the frequency domain through the use of the Fast Fourier Transform. The CUSUM algorithm is then used to detect any frequency changes. The final technique investigated involves transforming the generated residuals using the Haar wavelet. The wavelet coefficients are then monitored by the CUSUM algorithm in order to detect any significant change to the rigidity of the body frame.Detecting structural deformation, and quantifying the degree of deformation, during flight will ensure that these effects can be removed from the system, thus ensuring the most precise and reliable attitude parameter solutions. This paper, through a series ofsimulations, will assess the effectiveness of the above mentioned techniques for detecting structural deformation effects on a GPS multi-antenna array. These principles are then tested with experimental data.  相似文献   
95.
Summary The tissue specificity of lactate dehydrogenase (EC 1.1.1.27) in brain and eye of the teleostPhallichthys amates was examined by acrylamide gel electrophoresis. It is suggested that subunit association is a function of gene product accessibility superimposed upon genetic restriction of assembly.  相似文献   
96.
研究了新型无铅汽油添加剂甲基叔丁基醚(MTBE)、甲基叔戊基醚(TMAE)对正常人肝细胞系L-02的毒性作用,在较高浓度下,MTBE、TAME均对L-02正常人肝细胞的生长有影响,且TAME的毒性作用稍强,另外,用FT-IR法和^1H-NMR法研究了MTBE、TAME与人血红蛋白的体外作用,结果显示,MTBE、TAME与人血红蛋白无明显的直接作用。  相似文献   
97.
Summary Indoxyl derivatives were detected as minor products among the urinary metabolites of two trial drugs, a benzodiazepine (GP 55 129) and a benzophenone (CGP 11 952). Their structures were elucidated by NMR and mass spectroscopy. Presumably, metabolites containing potential aldehyde functions react spontaneously with endogenous indoxyl. Such derivatives have not hitherto been encountered in drug metabolism.  相似文献   
98.
The melatonin rhythm: both a clock and a calendar   总被引:24,自引:0,他引:24  
The paper briefly reviews the data which shows that the circadian production and secretion of melatonin by the pineal gland can impart both daily, i.e., clock, and seasonal, i.e., calendar, information to the organism. The paper summarizes the 3 patterns of nocturnal melatonin production that have been described. Clearly, regardless of the pattern of nocturnal melatonin production a particular species normally displays, the duration of nightime elevated melatonin is proportional to the duration of the night length. Since daylength under natural conditions changes daily the melatonin rhythm, which adjusts to the photoperiod sends time of year information to the organism. The melatonin receptors which subserve the clock message sent by the pineal gland in the form of a melatonin cycle may reside in the biological clock itself, namely, the suprachiasmatic nuclei (SCN). The melatonin receptors that mediate seasonal changes in reproductive physiology are presumably those that are located on the pars tuberalis cells of the anterior pituitary gland. Besides these receptors which likely mediate clock and calendar information, melatonin receptors have been described in other organs. Interestingly, the distribution of melatonin receptors is highly species-specific. Whereas the clock and calendar information that the melatonin cycle imparts to the organism relies on cell membrane receptors, a fact that is of some interest considering the high lipophilicity of melatonin, recent studies indicate that other functions of melatonin may require no receptor whatsoever.  相似文献   
99.
阐述了球面与圆筒刀具对心加工原理。介绍了应用该原理研制的SQJ—I型大型石球加工设备的结构特点、加工过程和性能特点。  相似文献   
100.
高等学校实验室及实验教学改革模式探讨   总被引:3,自引:0,他引:3  
本文分析了目前高校实验室建设中存在的主要问题,对高校实验教学和实验室管理模式的改革方式进行了探讨.  相似文献   
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