Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels

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.     

Effect of slag composition on the cleanliness of 28MnCr5 gear steel in the refining processes

The equilibrium reaction between CaO—Al₂O₃—SiO₂—MgO slag and 28MnCr5 molten steel was calculated to obtain the suitable slag composition which is effective for decreasing the oxygen content in molten steel. The dissolved oxygen content [O] in molten steel under different top slag conditions was calculated using a thermodynamic model and was measured using an electromotive force method in slag–steel equilibrium experiments at 1873 K. The relations among [O], the total oxygen content (T.O), and the composition of the slag were investigated. The experimental results show that both [O] and T.O decrease with decreasing SiO₂ content of the slag and exhibit different trends with the changes in the CaO/Al₂O₃ mass ratio of the slag. Increasing the CaO/Al₂O₃ mass ratio results in a decrease in [O] and an increase in T.O. To ensure that T.O ≤ 20 ppm and [O] ≤ 10 ppm, the SiO₂ content should be controlled to <5wt%, and the CaO/Al₂O₃ mass ratio should be in the range from 1.2 to 1.6.     

唇鱼骨基因组DNA提取与ISSR-PCR的优化

以唇鱼骨为材料,分别采用4种不同方法(CTAB法、SDS法、ROSE法及试剂盒)提取基因组DNA,并对影响PCR反应的模板DNA、引物、dNTPs、Mg2+、Taq酶浓度等主要因子进行了优化,建立了适合唇鱼骨基因组DNA的ISSR-PCR反应体系.25μL的PCR反应液含有的组分和终浓度分别为:约60 ng模板DNA,1.2 U Taq酶,0.4 μrnol/L引物,2.0 mmol/L MgCl2,0.2 mmol/L dNTPs,2%甲酰胺.结果表明,利用优化反应体系对4种不同方法提取的DNA进行PCR扩增,均能得到较好的PCR扩增条带,以试剂盒法最佳,为淡水溪流性同属鱼类遗传多样性分析奠定了技术基础.     

低温度系数高电源抑制比带隙基准源的设计

基于SMIC 0.18 μm CMOS工艺,设计了一种适用于数模或模数转换等模数混合电路的低温度系数、高电源抑制比的带隙基准电压源.针对传统带隙基准源工作电压的限制,设计采用电流模结构使之可工作于低电源电压,且输出基准电压可调;采用共源共栅结构(cascode)作电流源,提高电路的电源抑制比(PSRR);采用了具有高增益高输出摆幅的常见的两级运放.Cadence仿真结果表明:在1.8V电源电压下,输出基准电压约为534 mV,温度在-25～100℃范围内变化时,温度系数为4.8 ppm/℃,低频电源抑制比为-84 dB,在1.6～2.0 V电源电压变化范围内,电压调整率为0.15 mV/V.     

石灰石—石膏湿法烟气脱硫效率影响因素分析

从5个方面分析了影响石灰石—石膏湿法烟气脱硫效率的因素,并对各因素进行了综合探讨。     

基于抗差估计的变形监测基准网坐标系统转换

为监测地下煤炭开采对某矿工业广场内主、副井筒的影响,布设了由10个点构成的GPS基准网,从而为由54个监测点构成的井筒监测网提供在矿区坐标系统下的变形分析基准;在求解坐标转换参数时,为克服转换基准点中存在的位移对求参的影响,提出了采用抗差估计理论求参的模型及数据处理流程,并建立转换后GPS网的质量评价模型。根据对GPS基准网的处理结果,采用抗差估计求参,有利于保留GPS技术高精度的特点。     

吸收对对称性一维三元光子晶体能带的影响

利用复折射率及传输矩阵理论,研究了光子晶体的吸收对对称性一维三元光子晶体能带及透射峰的影响,研究表明:在反射波中,禁带的反射率随消光系数的增加而迅速降低,当k增加到0.005时,禁带边缘模糊,不存在明显的禁带;在透射波中,随着消光系数的增大,禁带边缘逐渐模糊,当k增加为0.003时,透射率降为0.35;光子晶体的消光系数对禁带内透射峰的透射率有着明显的影响,当k为0.001时,透射率下降到0.15,随着消光系数的增加,透射峰的半峰全宽随之增加,但对透射峰的中心波长没有影响.     

坛紫菜种质资源遗传多样性的AFLP分析

利用AFLP技术从基因组DNA水平上分析福建省主要坛紫菜栽培品系和诱变筛选获得的突变品系的遗传差异,在25对引物中,有11对能得到重复性好的多态性扩增条带,总共在667个位点能扩增出条带,每对引物扩增带数为24~90条,并且各对引物扩增结果均显示样品间存在差异.共得到522条多态性条带,占总扩增带的78.3%.根据AFLP图谱计算了不同样品间的遗传距离(D)和相似性系数(GS).优良品系GL和CCS之间的遗传距离最小,仅为0.264,不同样品间的相似性系数介于0.602~0.736之间.并根据D值绘制了它们的UPGMA聚类图谱.     

Genetic evidence against panmixia in the European eel

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.     

表面态对TiO_2纳米晶薄膜光电流的影响

研究 Ti O2 纳米晶薄膜电极的光电化学特性 .通过测定阳极光电流 -时间瞬态光电流响应 ,分析纳米晶薄膜 /溶液界面的光生电荷转移的动力学规律 .光照后的慢电流响应与 Ti O2纳米材料的表面态有关 .导带电子向深能级表面态的传递是造成慢电流响应的原因 .