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131.
Duchenne muscular dystrophy (DMD) is an X-linked disorder affecting about 1 in 3,500 males. It is allelic with the milder Becker muscular dystrophy. The biochemical basis for both diseases is unknown and no effective treatment is available. Long-range physical mapping has shown that the DMD gene, localized in Xp21, is extremely large, exceeding 2 million base pairs. Until now, carrier detection and prenatal diagnosis has involved the use of linked restriction fragment length polymorphism markers which detect muscular dystrophy-associated deletions in about 10% of the cases. Field inversion gel electrophoresis (FIGE) allows the detection of structural rearrangements in 21 out of 39 of the DMD patients studied (54%), of which 14 (65%) were not detected by conventional methods. Large deletions seem to make up a much higher fraction of the DMD mutations than so far indicated by other methods. A region prone to deletion was located in the distal half of the gene. FIGE analysis could provide a valuable extension of information for carrier detection and prenatal diagnosis. The technique should be generally applicable to the study of diseases involving structural chromosomal rearrangements.  相似文献   
132.
基于换热过程中的损失率能定量地反映该过程中流体的传热与流动的综合性能这一特性,借助换热过程的损失率方程,分析比较了几种流体工质在不同换热方式下的综合特性。比较结果表明,液体(如水)有远优于气体(如空气)的流动与传热的综合性能,且随着流体温度的升高其优势更为明显。同时表明分析法在定量评价换热工质性能的突出特点及工程上的应用价值。  相似文献   
133.
采用球面刀在三坐标数控机床上加工具有凸曲面工位的零部件时,往往会导致几何形状误差,对此,运用点涉法原理,推导出在凸曲面上确定平头立铣刀五轴和三轴数控联动加工刀位轨迹的计算方法。  相似文献   
134.
The optical properties of Nd x Gd 1-x Al\-3(BO\-3)\-4 (NGAB) crystal are reported. The refractive index of it were mesured by V_prism method. The absorption spectra and the flourescence specra of NGAB were also obtained. The optical parameters of NGAB were calculated following J_O theory, the three optical parameters are Ω 2 =1 805×10 -20 , Ω 4=1 85×10 -20 , Ω 6=3 793×10 -20 (RMS=1 4×10 -7 ) and β c( 4F 3/2 → 4I 11/2 ) is about 0 53.  相似文献   
135.
Genetic evidence against panmixia in the European eel   总被引:20,自引:0,他引:20  
Wirth T  Bernatchez L 《Nature》2001,409(6823):1037-1040
The panmixia hypothesis--that all European eel (Anguilla anguilla) migrate to the Sargasso Sea for reproduction and comprise a single, randomly mating population--is widely accepted. If true, then this peculiar life history strategy would directly impact the population genetics of this species, and eels from European and north African rivers should belong to the same breeding population through the random dispersal of larvae. To date, the panmixia hypothesis has remained unchallenged: genetic studies realized on eel's mitochondrial DNA failed to detect any genetic structure; and a similar lack of structure was found using allozymes, with the exception of clinal variation imposed by selection. Here we have used highly polymorphic genetic markers that provide better resolution to investigate genetic structure in European eel. Analysis of seven microsatellite loci among 13 samples from the north Atlantic, the Baltic Sea and the Mediterranean Sea basins reveals that there is global genetic differentiation. Moreover, pairwise Cavalli-Sforza and Edwards chord distances correlate significantly with coastal geographical distance. This pattern of genetic structure implies non-random mating and restricted gene flow among eels from different sampled locations, which therefore refute the hypothesis of panmixia. Consequently, the reproductive biology of European eel must be reconsidered.  相似文献   
136.
Embryonic stem (ES) cells, the totipotent outgrowths of blastocysts, can be cultured and manipulated in vitro and then returned to the embryonic environment where they develop normally and can contribute to all cell lineages. Maintenance of the stem-cell phenotype in vitro requires the presence of a feeder layer of fibroblasts or of a soluble factor, differentiation inhibitory activity (DIA) produced by a number of sources; in the absence of DIA the ES cells differentiate into a wide variety of cell types. We recently noted several similarities between partially purified DIA and a haemopoietic regulator, myeloid leukaemia inhibitory factor (LIF), a molecule which induces differentiation in M1 myeloid leukaemic cells and which we have recently purified, cloned and characterized. We demonstrate here that purified, recombinant LIF can substitute for DIA in the maintenance of totipotent ES cell lines that retain the potential to form chimaeric mice.  相似文献   
137.
Stem cells, cancer, and cancer stem cells.   总被引:312,自引:0,他引:312  
T Reya  S J Morrison  M F Clarke  I L Weissman 《Nature》2001,414(6859):105-111
Stem cell biology has come of age. Unequivocal proof that stem cells exist in the haematopoietic system has given way to the prospective isolation of several tissue-specific stem and progenitor cells, the initial delineation of their properties and expressed genetic programmes, and the beginnings of their utility in regenerative medicine. Perhaps the most important and useful property of stem cells is that of self-renewal. Through this property, striking parallels can be found between stem cells and cancer cells: tumours may often originate from the transformation of normal stem cells, similar signalling pathways may regulate self-renewal in stem cells and cancer cells, and cancer cells may include 'cancer stem cells' - rare cells with indefinite potential for self-renewal that drive tumorigenesis.  相似文献   
138.
建立了非共轭齿面鼓形齿联轴器的内外齿面方程,根据非共轭齿面的啮合条件进行了啮合状态的计算分析,得出了若干运动学分析的结论.  相似文献   
139.
Climate-driven trends in contemporary ocean productivity   总被引:6,自引:0,他引:6  
Contributing roughly half of the biosphere's net primary production (NPP), photosynthesis by oceanic phytoplankton is a vital link in the cycling of carbon between living and inorganic stocks. Each day, more than a hundred million tons of carbon in the form of CO2 are fixed into organic material by these ubiquitous, microscopic plants of the upper ocean, and each day a similar amount of organic carbon is transferred into marine ecosystems by sinking and grazing. The distribution of phytoplankton biomass and NPP is defined by the availability of light and nutrients (nitrogen, phosphate, iron). These growth-limiting factors are in turn regulated by physical processes of ocean circulation, mixed-layer dynamics, upwelling, atmospheric dust deposition, and the solar cycle. Satellite measurements of ocean colour provide a means of quantifying ocean productivity on a global scale and linking its variability to environmental factors. Here we describe global ocean NPP changes detected from space over the past decade. The period is dominated by an initial increase in NPP of 1,930 teragrams of carbon a year (Tg C yr(-1)), followed by a prolonged decrease averaging 190 Tg C yr(-1). These trends are driven by changes occurring in the expansive stratified low-latitude oceans and are tightly coupled to coincident climate variability. This link between the physical environment and ocean biology functions through changes in upper-ocean temperature and stratification, which influence the availability of nutrients for phytoplankton growth. The observed reductions in ocean productivity during the recent post-1999 warming period provide insight on how future climate change can alter marine food webs.  相似文献   
140.
阐述了轴向磁场盘式永磁无刷直流发电机的结构及其特点,提出了气隙磁场的简化模型,并对三维磁场进行了分析,在此基础上探讨了这种电机的设计方法,以最大功率输出为优化目标,导出了几个简单实用的设计公式。6极9相样机的实测数据证实了分析和设计方法的正确性,这种无刷直流发电机结构紧凑,效率高,特别适用于由引擎驱动的发电系统。  相似文献   
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