Towards unlimited colors for fluorescence in-situ hybridization (FISH)

We describe a FISH protocol that allows rehybridization of complex DNA probes up to four times to the same specimen. This strategy, which we termed ReFISH, opens a wide range of new applications to conventional band pass filter epifluorescence microscopy. These include M-FISH karyotyping and cross-species color banding that emulate multiplex probe sets labeled with up to 12 fluorochromes in sequential hybridizations to the same specimen. We designed a human 24-color karyotyping probe set in combination with a 29-color cross-species color banding probe set using gibbon painting probes. Applying the ReFISH principle, 53 painting probes on individual metaphases were discriminated. This allowed simultaneous screening for inter- and intrachromosomal rearrangements on normal human diploid cells, a HeLa derived cell line, and highly rearranged gibbon chromosomes. Furthermore, the present ReFISH experiments successfully combine 24-color FISH with laser scanning confocal microscopy to study the 3D organization of all 46 human chromosome territories in individual interphase cell nuclei.     

Sources of behavioral deviation modeled by early color preferences in quail. III. Developmental stability and normative canalization

Successful artificial selection of quail (C. coturnix japonica) for divergent early approach preferences for, and imprintabilities to, the wavelength characteristics of otherwise identical visual stimuli decreased the trait's developmental stability. The developmental error that resulted from selecting for extreme initial preferences was associated with enhanced imprintabilities. Conversely, the developmental error that resulted from selecting for extreme imprintabilities was associated with enhanced expression of directional gene effects in extreme initial preferences. The data are attributed to selectively relaxed normative canalization of trait development, and to related enhanced expression of genetic, environmental, and stochastic influences in trait deviations.     

起搏负荷超声与常规多普勒超声心动图对冠心病检出率的比较

目的　通过食道心房起搏负荷试验 ,使用彩色多普勒超声心动图对左心室室壁运动状态及左心室舒缩功能改变进行评价 ,以提高冠心病诊断的检出率 ;方法　使用心脏程序刺激仪经食道起搏导管调整心率达次极量 ;同时使用彩色多普勒超声心动仪进行左心室室壁运动记分并记录二尖瓣口及主动脉瓣环部血流频谱 ;结果　经食道心房起搏增加心脏负荷 ,应用左心室每搏量 (SV)、主动脉瓣环部流速积分 (VTIAO)、等容舒张时间 (IVRT)、二尖瓣口流速积分(VTIMV) )、快速充盈分数 (RFI)及室壁运动记分指数 (WMSI)作为指标在冠心病诊断中可提高检出率 ,以WMSI结合其它两项左心室舒缩功能阳性指标 ,其冠心病诊断的检出率为 95 % ,假阳性率为 3% ;结论　经食道心房起搏彩色多普勒负荷超声心动图 (TPDE)在冠心病诊断中有较高的应用价值 ,因其简便、实用和安全 ,宜在临床广泛推广使用     

增殖性瘢痕色度测量方法的研究

目的:临床评价增殖性瘢痕的颜色需要定量测量.本实验主要研究增殖性瘢痕色度的测量方法,实现瘢痕颜色的定量测量,为临床诊治提供量化依据.材料与方法:采用以光电积分式测量原理设计的色彩分析仪对增殖性瘢痕患者19人,共65个测试点按不同部位分为四组进行色度测量,并与正常组对照.用CIE-XYZ色度标准表达测量值,配合色度图直接观察瘢痕的疗效.结果:增殖性瘢痕各部位组的色度坐标值与相应的对照组比较均有显著性差异(P＜0.05).结论:本实验的测量方法是有效的,能准确、定量反映增殖性瘢痕颜色的变化.可用量化指标总结、分析、报告治疗结果.     

Interstrain variability of larval photokinesis inDrosophila melanogaster

Larvae from seven laboratory strains and eight isofemale lines ofDrosophila melanogaster differ significantly with regard to their responses to light in a photokinesis assay in which the larvae are tested en masse. Larvae from the CA-2 laboratorystock fail to disperse on assay plates, although observations of individual CA-2 larvae suggest that the larvae are repelled by light. Larvae from all of the other laboratory stocks and all of the isofemale lines (except LI2 and NC5) avoid light in the photokinesis assay. Larvae from some stocks are much more strongly repelled by light than larvae from other stocks. LI2 larvae are unresponsive to light in most replicates of the photokinesis assay, while NC5 larvae are consistently unresponsive to light. Observations of F₁ heterozygotes suggest that the allele(s) that affects the vision of LI2 and NC5 larvae has net effects on the animals' behavior that are partially dominant and recessive, respectively.     

Multisensory integration mechanisms in haptic space perception

It has been argued that representations of peripersonal space based on haptic input are systematically distorted by egocentric reference frames. Interestingly, a recent study has shown that noninformative vision (i.e., freely viewing the region above the haptic workspace) improves performance on the so-called haptic parallel-setting task, in which participants are instructed to rotate a test bar until it is parallel to a reference bar. In the present study, we made a start at identifying the different sensory integration mechanisms involved in haptic space perception by distinguishing the possible effects of orienting mechanisms from those of noninformative vision. We found that both the orienting direction of head and eyes and the availability of noninformative vision affect parallel-setting performance and that they do so independently: orienting towards a reference bar facilitated the parallel-setting of a test bar in both no-vision and noninformative vision conditions, and noninformative vision improved performance irrespective of orienting direction. These results suggest the effects of orienting and noninformative vision on haptic space perception to depend on distinct neurocognitive mechanisms, likely to be expressed in different modulations of neural activation in the multimodal parietofrontal network, thought to be concerned with multimodal representations of peripersonal space.     

序列解剖层片的全局和局部色彩校正

本研究提出了一种全局和局部相结合的序列解剖层片的色彩校正算法。利用数字人层片（中国女婴一号）上提供的彩色灰度卡对相邻层片间各颜色通道的色彩差异进行全局校正，以消除解剖数据集沿垂直方向的光照变化；再利用线性校正模型和差值图像各通道（R、G、B）的灰度局部直方图，对解剖数据集进行局部色彩差异校正。重建结果表明，经过全局和局部色彩校正后，重建视图中的明暗条纹基本消失，说明层片间颜色的不连续现象得到了校正。     

Partial trisomy 6p and partial monosomy 9p from a de novo translocation 46, XY, -9, + DER(9)T(6:9)(p211:p24)

This report describes an adult male with a partial trisomy 6p(p211-pter) and a partial monosomy 9p(9p24-pter) resulting from a de novo unbalanced translocation. This patient does not show the classical featured of the 9p partial monosomy syndrome, thus disputing the claim of Hoo et al. (1982) that 9p24 is the critical segment for the monosomy syndrome. Partial trisomy for 6p has only been previously reported in children. In addition to the chromosomal anomalies, the patient has autosomal recessive spinal muscular atrophy with a different age of onset than two affected sibs. Finally, he shows unusual audiologic and ophthalmologic signs nor previously reported as part of the 9p monosomy or 6p trisomy syndromes.     

Monocular and binocular control of human interceptive movements

Previous work in our laboratory has demonstrated that binocular vision makes an important contribution to skilled reaching and grasping movements directed at static targets. In the present study we examine the contribution of binocular vision to interceptive reaching movements. We monitored such movements using a high-resolution, opto-electronic recording device (WATSMART), while subjects attempted to catch balls projected at them. No differences were found between monocular and binocular viewing conditions using this paradigm – either with respect to the velocity profiles or trajectories of the reaches. Moreover, the grasp was not affected by the type of vision available. It appears, then, that the moving targets provide adequate monocular depth and direction information (on the basis of optic flow) for the control of skilled interceptive movements directed at them. In addition, the time to achieve maximum grip aperture was constant across the trials – a finding consistent with the use of a time-to-contact variable derived from optic flow information. Finally, the transport component of prehension was found to be affected by certain variables that have, in the past, been thought to exclusively affect the grasp component of prehension, whereas the grasp component of prehension was affected by factors that have traditionally been thought to affect only the transport component. Received: 12 August 1996 / Accepted: 1 September 1997     

中国Leber遗传性视神经病变G11696A突变两个家系分析

目的对两个中国Leber遗传性视神经病变(Leber’shereditary optic neuropathy,LHON)家系的临床和分子遗传学特征进行分析。方法眼科临床检查发现在这两个家系中只有先证者1人出现视力障碍,发病年龄分别为10岁和17岁。对这两个家系先证者使用24对有部分重叠的引物进行线粒体DNA(mitochondrial DNA,mtDNA)全序列扩增分析。结果没有发现mtDNAG11778A、G3460A和T14484C3个常见的突变位点,而发现了与LHON相关的ND4G11196A同质性突变位点的存在,在167名正常对照只发现1例G11696A突变。结论线粒体DNA全序列分析发现两个家系呈现独特的mtDNA多态性,都属于东亚单体型D4。不完全外显率和正常对照频率(1/167)表明G11696A突变本身不足以导致LHON的发生,说明其它因素在这两个LHON家系的表型表达中也起一定的作用。在这些家系mtDNA中缺乏影响重要功能突变位点的存在,排除了线粒体背景对LHON临床表型的影响。因此,核修饰基因、环境因素可能对两个中国G11696A突变家系的外显率和发病严重程度起促进作用。