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51.
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
52.
复合材料薄平板经热压制成后,都需要进行质量检测。本文探索用测量模态阻尼和振型的方法,对复合材料薄平板的制作质量进行无损检测,作为对其它昂贵的无损检测方法的补充。略述用振动方法进行无损检测的原理,测量薄平板阻尼的方法以及提高测量精度的措施。还讨论在测量薄平板阻尼时可能遇到的一些特殊问题(如非线性刚度、拍、模态密集等问题);以云母基复合材料薄平板作为例子,从测量其阻尼和振型的结果,对这种板的制作质量进行讨论。 相似文献
53.
Fibulin-5/DANCE is essential for elastogenesis in vivo. 总被引:19,自引:0,他引:19
Tomoyuki Nakamura Pilar Ruiz Lozano Yasuhiro Ikeda Yoshitaka Iwanaga Aleksander Hinek Susumu Minamisawa Ching-Feng Cheng Kazuhiro Kobuke Nancy Dalton Yoshikazu Takada Kei Tashiro John Ross Jr Tasuku Honjo Kenneth R Chien 《Nature》2002,415(6868):171-175
The elastic fibre system has a principal role in the structure and function of various types of organs that require elasticity, such as large arteries, lung and skin. Although elastic fibres are known to be composed of microfibril proteins (for example, fibrillins and latent transforming growth factor (TGF)-beta-binding proteins) and polymerized elastin, the mechanism of their assembly and development is not well understood. Here we report that fibulin-5 (also known as DANCE), a recently discovered integrin ligand, is an essential determinant of elastic fibre organization. fibulin-5-/- mice generated by gene targeting exhibit a severely disorganized elastic fibre system throughout the body. fibulin-5-/- mice survive to adulthood, but have a tortuous aorta with loss of compliance, severe emphysema, and loose skin (cutis laxa). These tissues contain fragmented elastin without an increase of elastase activity, indicating defective development of elastic fibres. Fibulin-5 interacts directly with elastic fibres in vitro, and serves as a ligand for cell surface integrins alphavbeta3, alphavbeta5 and alpha9beta1 through its amino-terminal domain. Thus, fibulin-5 may provide anchorage of elastic fibres to cells, thereby acting to stabilize and organize elastic fibres in the skin, lung and vasculature. 相似文献
54.
D Ashall B Parkinson 《厦门大学学报(自然科学版)》2002,(Z1)
Background: During the last fifteen years there ha s been an increased drive for organisations to reduce costs. From a production po int, this has often centred on lean manufacturing and JIT waste elimination proc esses. However, in 1991, the Iaccocca Institute Bethlehem P.A commissioned a re port specifically to analyse the changing nature of the marketplace. As a result , in the following year, the Agile Manufacturing Forum was initiated and the ter m ‘agile or responsive manufacturing‘ was first intr... 相似文献
55.
当 Kjell Ekhorn 还在学校学习图形设计,Jon Forss 已在这个行业里工作了不少年头。1989年 Jon Forss 于1LeicesterPolytechnic 毕业后就在 Bath 为一家广告代理商工作,四年之后他移居伦敦为 namara 设计公司设计图书封面。五年以后,他遇到从伦敦 Centrl St.Martins 学校毕业不过两年,正以自由职业者身份从事图书封面设计、图片制作和摄影工作的 Kjell Ekhorn。两人惊讶于互相对图书封面设计的看法,一时相见恨晚,然后自然而然的开始了两人合作的NON-FORMAT 时代。 相似文献
56.
57.
The melatonin rhythm: both a clock and a calendar 总被引:24,自引:0,他引:24
R. J. Reiter 《Cellular and molecular life sciences : CMLS》1993,49(8):654-664
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
58.
卢武星 《北京师范大学学报(自然科学版)》1994,(4)
1.0MeV208Pb离子在非晶Si中的投影射程RP和射程偏差ΔRP作为注量和温度二者的函数用背散射法进行测定.注量的变化范围为5×1013~7×1014cm-2.注入是在室温和t=-120℃下完成的.由由实验所确定的投影射程,射程偏差与注量或温度无关,并且分别等于295和72.2nm.与TRIM86的计算结果相比较,发现RP的偏离为18%,而ΔRP的偏离为36%.RP和ΔRP二者与注量及温度的无关性,排除了所观察到的与TRIM的矛盾是由于注入期间辐射增强扩散或离子束混合效应而引起的解释。 相似文献
59.
The genetic engineering of production traits in domestic animals 总被引:1,自引:0,他引:1
60.
Non-Minimum Phase Nonlinear System Predictive Control Based on Local Recurrent Neural Networks 总被引:3,自引:0,他引:3
Abstract: After a recursive multi-step-ahead predictor for nonlinear systems based on local recurrent neural networks isintroduced, an intelligent PID controller is adopted to correct the errors including identified model errors and accumulatederrors produced in the recursive process. Characterized by predictive control, this method can achieve a good controlaccuracy and has good robustness. A simulation study shows that this control algorithm is very effective. 相似文献