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71.
Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis. 总被引:26,自引:0,他引:26
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
72.
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
73.
周逢琴 《绵阳经济技术高等专科学校学报》2005,22(3):10-13
汉语自19世纪末开始走上漫长的欧化之路,在语音、词汇、句法等方面,汉语欧化痕迹均十分明显.汉语欧化进程中,近代散文文体得到了极大的解放,同时散文对语言欧化进程也有一定的影响.以新文体、逻辑文为例可以分析得出,政论散文由于欧化而趋向浅近、平易,表达方式趋于严谨,语意更加曲折.但是散文文体的解放仍然有限,近代散文家对古文的复杂态度,古文广泛的作者和读者基础,构成散文文体全面解放的阻力. 相似文献
74.
J. S. Frankel 《Cellular and molecular life sciences : CMLS》1982,38(6):673-674
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
75.
本文以~5B_2为基态,在强场图象下用微扰理论推导出了轴向零场分裂参量D的1到4阶微扰计算公式(~5D近似),并就公式的微扰收敛性进行了系统的讨论.通过计算和分析表明,当第一激发态靠近基态使得其能量与旋轨耦合常数ζ可比拟时.微扰公式是发散的.这时,微扰近似方法将不再有效。但在大多数情况下,公式保持有较好的收敛性.同时,给出了使微扰松式有效的晶场参量D_9、δ和μ的近似取值范围,为~5D近似公式的应用提供了有价值的参考。 相似文献
76.
J. W. Faigle H. Stierlin H. Mory T. Winkler H. -P. Kriemler 《Cellular and molecular life sciences : CMLS》1985,41(4):476-478
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
77.
The transfer of Sr~(2+) and Ba~(2+) ion, facilitated by 18-Crown-6 present in the aqueous phase, and of succinylcholine ion at w/nb interface were investigated by semi-differential cyclic voltammetry. A good polarographic curve of succinylcholine ion dissolved in water was obtained in the system of 0.01 mol/l LiCl (w)——0.01 mol/l TBATPB (nb). The peak current is directly proportional to the concentration of SC~(2+) ion. It can be used for the determination of SC and the detection limit is 1.05×10~(-5) mol/l.The apparent D~w and D~(nb) have been estimated. The transfer of Sr~(2+) and of Ba~(2+) at the interface are facilitated by 18-Crown-6 present in the aqueous phase and the peak current is directly proportional to the concentration of 18-Crown-6 in water. This method can be used for the determination of the complexing agent and for the stability constant of the complex formed in the aqueous phase.All the experimental results are in keeping with the theoretical. 相似文献
78.
由2—噻吩基锂和N-吡咯格氏试剂分别与氟五甲基二硅烷反应,制得了2—噻吩基、五甲基二硅烷(Ⅰ)和N-吡咯基五甲基二硅烷(Ⅱ)。两种二硅烷都是无色液体。Ⅰ在室温下空气中是稳定的,Ⅱ在空气中逐渐转变成绿褐色。元素分析,IR,~1H MR和MS分析证实了其结构。Ⅰ和Ⅱ的最大紫外吸收峰分别为242.0nm和220.1nm。 相似文献
79.
科斯社会成本问题与政府管制的效率实现 总被引:1,自引:0,他引:1
科斯在其社会成本一文中提出经济行为具有相互性,并很好地将交易成本理论运用在经济行为中,通过交易成本为零的理想世界到交易成本为正的现实世界进行条件转换分析,提出了外在性存在的根源及解决途径主要包括自愿协商(市场)、企业、政府和法律四种;提出由市场解决不好的问题,不一定政府就解决的很好;提出应从社会净收益最大化的角度来看,关键在于避免较严重的损害的观点,即如何使损失最小化或使社会经济运行效率最大化。他的这些思想,使经济学家注意到了交易成本的各种后果,大大地提高了经济的解释力。为政府更有效地进行管制提供了理论支撑。 相似文献
80.
本文通过工程实例,阐述如何利用现有信息来设计产品的老炼条件,以使它在保证产品达到规定可靠性的前提下尽量节省成本 相似文献