色觉与色盲的分子遗传学

几个世纪以来总把有色盲的一组疾病看作是家族性疾病,它几乎无例外地只累及男性。然而,直到Horner发表了几个色盲系谱后,才为科学界承认色觉的缺陷是遗传性的。色盲这一术语指的是大约12种先天性的色觉异常,而其中有些色觉异常很少见。所谓红/绿色觉缺陷相当常见,累及大约8%的美国男性,这正是俗人所说的色盲。红色盲不能区分界于红、绿之间的颜色,且对红色很不敏感,这与患者的红椎细胞中缺少对长波敏感(LWS)的感光色素相一致。绿色盲则是由于在绿椎细胞中缺少对中波敏感(MWS)的感光色素。     

先天性红绿色觉异常基因缺失与杂种基因融合位点分析

目的　研究先天性红绿色觉异常基因缺失与杂种基因融合位点。方法　收集１１ 例红色觉异常、１９ 例绿色觉异常和５ 名正常人的白细胞基因组 Ｄ Ｎ Ａ,分别用 Ｐ Ｃ Ｒ 法扩增每人的红和绿色觉基因的启动子和外显子２ 、３ 、４ 和５ ,应用异源双链 Ｓ Ｓ Ｃ Ｐ 法分析 Ｐ Ｃ Ｒ 产物,用已知序列的红与绿色觉基因产物作标准,确定待检个体红或绿色觉基因的来源与各部分的组成。结果　３０ 例红与绿色觉异常患者中１４ 例可检测到杂种基因,７ 例完全缺失绿色觉基因。杂种基因融合位点分别在外显子１ ～内含子１（４ 例） 、内含子２ ～３（５ 例） 和内含子４（５ 例） 。结论　外显子３ 及其邻近的内含子２ 和３ 仍是常见的融合位点,但在其它部位发生的融合也不少见。     

X连锁隐性遗传性眼球震颤一家系

先证者(V27)男，31岁。在其子出生后临床监护过程中发现其眼球震颤。查体：发育、智力及身体健康状况正常。双眼视力均为0．15。双眼球呈钟摆型颤动，伴轻微头水平摆动，无明显消震点及代偿头位。遮盖-眼查视力，眼震相应加快，色觉检查正常，同时视功能正常，融合功能在0～8度范围内，无立体视功能，屈光间质未见异常，眼底以-5D看清，颞侧视乳头颜色明显变淡，插-2．5D镜片视力提高至0．25，诊断为先天性眼球震颤，屈光不正，视神经萎缩，弱视。     

人体神经定量电流感觉检测系统的研制

电流感觉阈值测试是人体神经感觉功能的定量感觉测试方法的一种．它采用特定频率的正弦恒电流刺激人体神经末梢感受器，检测人体对电流刺激的最小感受量，用于定量评估神经功能。本文回顾了国际上电流感觉阈值测试技术的发展与现状，介绍了我们开发的人体神经定量电流感觉检测系统。该系统采用生理心理统计算法过滤人体主观感受的影响，具有双盲全自动测量功能，测量结果具有很好的重复性。     

降低功耗的高频磁刺激仪电路参数优化设计及仿真

针对重复经颅磁刺激仪功率消耗高的问题，我们通过建立电路模型，利用MATLAB平台进行仿真计算，研究了一种对放电的剩余能量进行有效回收的方法，并对磁刺激仪充放电及电能回收电路进行了设计，同时利用MCU实现了对电路充放电的智能控制。通过NI的Multisim平台对电能回收电路进行了仿真验证。仿真结果表明，本研究设计的电能回收电路，能使放电能量的回收率达到21％，从而降低了重复经颅磁刺激系统的功耗，提高了电能的利用效率。     

造血系统恶性肿瘤患者肾功能的放射免疫检测

造血系统恶性肿瘤患者肾功能的放射免疫检测马晓星，罗南萍，孙文杰，于春宝，杨道理，王鲁群，孔凡盛利用放射免疫分析测定尿蛋白，灵敏、方便，可区别蛋白种类。尿中蛋白的联合检测有助于早期判断肾脏病变的部位及程度［１］。检测了９６例造血系统恶性患者血清和尿β２...     

多参数经皮神经肌肉电刺激仪的设计

目的：电刺激仪器是通过电流作用于目标组织，使目标组织产生相应的功能变化。刺激方式、刺激电流、波形等均会影响治疗效果。市面上现有的神经肌肉电刺激仪一般只有单一的治疗模式，局限性很大。为了有针对性地治疗不同肌肉疾病，我们设计了一个能够方便准确地控制刺激电流的多参数经皮神经肌肉电刺激仪系统：方法：设计了一个以STC12C5410AD单片机为核心控制芯片的多参数经皮神经肌肉电刺激仪系统，采用串口实现上下位机的通讯，通过软件编程，上位机发送波形、频率、脉宽、间隙时间、最大刺激电流等各项参数指令，由单片机控制D／A转换芯片DAC8532输出指定波形，经过高压开关保护电路加入恒流源电路，产生恒定的电流对目标组织进行刺激。系统加入多项安全控制措施，有效地避免了实际操作过程中的安全隐患；结果：通过对系统进行电阻测试，验证了系统为恒流型仪器，经过电阻的刺激电流由且仅由输入信号的各项参数确定，与电阻的大小无关。由临床试验证明了通过改变参数，可以改变刺激模式，并验证了该系统的安全性和有效性。结论：该系统能设置成临床上使用的经皮电神经刺激疗法的各种模式。安全有效，有利于临床实验和相关科研的开展。     

利用VEP测量视觉系统红,绿通道的反应时间差

本文应用彩色诱发电位（ＣＯＬＯＲ ＶＥＰ）在专门研制的双计算机互连系统，对人眼视觉系统中颜色通道的时间响应特性作初步研究，实验发现，在等主观亮度而颜色不同的棋盘格图形翻转刺激下ＶＥＰ中Ｎ１波的伏期因刺激颜色不同而不同。对实验结果的数据做统计的分析得出人眼颜色并行通道对三基色的响应有明显的差别，绿通道快于红通道。此结果１９９０年ＳＳ．Ｍ．Ｃｏｕｒｔｎｅｙａｎｄ Ｇ．Ｂｕｃｈｓｈａｕｍ提出的视觉颜色的     

正常与异常的色觉基因

人类具有三种色觉基因。“蓝色”基因位于7号染色体上,而“红色”与“绿色”基因位于X染色体长臂末端-Xq28。相应的色素位于三种不同类型的视锥细胞中。这些色素具有特征性的最大吸收光谱:蓝色为短波,长420nm;绿色为中波,长530nm;红色为长波,长560nm。“绿色”与“红色”的设计是最简便的,因为这两种色素可把吸收光谱调节到包括整个可见光谱。与视紫质有关的一个基因位于3号染色体上,且只在视椎细胞中表达,产生无色暗视觉(495nm)。累及绿色和红色色素基因的X连锁色盲     

磁、电刺激运动诱发电位的对比

磁、电刺激运动诱发电位的对比黄福南综述曹起龙审校定量检测中枢运动传导功能的运动诱发电位（ＭＥＰ）已发展成为有一定实用价值的临床神经电生理学新技术。其刺激模式有两种：电刺激和脉冲磁刺激。经历十余年的探索、研究及临床应用，证明经颅电磁刺激ＭＥＰ不仅安全、...     

基于色差评定理论的尿液生化分析方法研究

尿液生化分析是医院临床重要的检查诊断手段.常规尿液分析方法主要有比色目视评价和自动化检测,其中比色目视评价方法已基本被淘汰;自动化检测方法多为医院采用,市场上的尿液生化分析仪价格一般在两万元左右,难以走进普通家庭.计算机视觉不受人的生理和心理因素影响,评价客观、稳定.为此,依据颜色理论,建立计算机视觉系统,对标准阈值颜色和与尿液反应后尿试纸的颜色进行采集、处理、显示和色差评价,便可准确地判定病情级别.我们介绍一种新颖的、方便操作的,可普及于家庭的尿液生化分析方法.实验结果表明,此方法方便、廉价、检测迅速、可实现全程监控,应用前景十分光明.     

Sensitizing properties of spectral lights in 4-month-old human infants

Previous studies of infant attention, learning, and memory have revealed that certain stimulus properties may increase an infant's arousal or excitation level, thereby increasing responsiveness and facilitating the encoding and processing of information. In a series of experiments aimed at identifying stimulus determinants of sensitization, we examined visual responses from 4-month-old infants to spectral lights. Habituation data were obtained from 92 full-term infants separated into one of five groups. Each group viewed either a broadband white light (correlated color temperature ≃ 2800 K) or one of four different spectral lights (λ_d = 470, 510, 570, or 650 nm) approximately corresponding to the elemental hues blue, green, yellow and red, respectively, for adults with normal trichromatic vision. Stimuli were equated in luminous efficiency for a standard infant observer. Stimulus fixation was recorded for twelve 10-s presentations, each separated by 10-s interstimulus intervals (ISIs). The results show that mean fixation times to the red and green lights were significantly greater than those for the blue and white light. Mean fixation time for the yellow light was also reduced (significantly) to the red but not the green light. These results suggest that the chromatic properties of red and green spectral lights may be more sensitizing to infants than those of the blue, yellow, or white lights. © 1997 John Wiley & Sons, Inc. Dev Psychobiol 30: 275–281, 1997     

一种双计算机互联的视觉诱发电位采集系统

本文研制了一种采用二台计算机互联方法实现的诱发电位采集系统，该系统将刺激图形的产生和数据采集分别由两台计算机来完成，通过一些附加的处理保证了模式“给”“撤”光与数据采集的同步，实验结果与目前通用的诱发电位仪的结果基本一致，但比一般的诱发电位仪具有更丰富更灵活的刺激图形方式，本系统为深入研究ＶＥＰ提供了一个价廉、方便、灵活的实验系统。     

The molecular basis of variation in human color vision

Common variation in red-green color vision exists among both normal and color-deficient subjects. Differences at amino acids involved in tuning the spectra of the red and green cone pigments account for the majority of this variation. One source of variation is the very common Ser180Ala polymorphism that accounts for two spectrally different red pigments and that plays an important role in variation in normal color vision as well as in determining the severity of defective color vision. This polymorphism most likely resulted from gene conversion by the green-pigment gene. Another common source of variation is the existence of several types of red/green pigment chimeras with different spectral properties. The red and green-pigment genes are arranged in a head-to-tail tandem array on the X-chromosome with one red-pigment gene followed by one or more green-pigment genes. The high homology between these genes has predisposed the locus to relatively common unequal recombination events that give rise to red/green hybrid genes and to deletion of the green-pigment genes. Such events constitute the most common cause of red-green color vision defects. Only the first two pigment genes of the red/green array are expressed in the retina and therefore contribute to the color vision phenotype. The severity of red-green color vision defects is inversely proportional to the difference between the wavelengths of maximal absorption of the photopigments encoded by the first two genes of the array. Women who are heterozygous for red and green pigment genes that encode three spectrally distinct photopigments have the potential for enhanced color vision.     

Cortical activation during color discrimination task in macaques as revealed by positron emission tomography

Physiological and lesion studies have shown that the anterior inferior temporal (IT) cortex (aITC) is involved in the color vision of macaque monkeys. However, some functional imaging studies using awake monkeys contradicted the involvement of aITC in color vision. Thus, in most of the imaging studies, cortical activation has been observed during a fixation task. However, because the neuronal activity of aITC is highly affected by the behavioral task, it is desirable to investigate cortical activity during a color discrimination task to determine the functional role of aITC in the color vision of macaque monkeys. In this study, we investigated the cortical activity of aITC of macaque monkeys during color discrimination by positron emission tomography. Two monkeys were trained in a color discrimination task. Cortical areas involved in color processing were investigated by comparing activities during the color discrimination and lever release tasks. In addition to area V4 and the posterior IT cortex (pITC), we found color-related activities in the anterior IT gyrus. Consistent activation was observed in the region posterior to the anterior medial temporal sulcus (AMTS), although the exact location and the size of activations differed between monkeys and hemispheres. We also found color-related activities in the anterior portion of the superior temporal sulcus (STS), suggesting its involvement in the color vision. The present results revealed that aITC is involved in the color vision of macaque monkeys by a functional imaging technique.     

基于计算机视觉技术的猕猴桃分级方法

手工猕猴桃分级存在耗时、费力、成本高、效果差等缺点,而计算机视觉技术分级具有速度快、信息量大、精确度高等优势。本文通过描述计算机视觉技术对猕猴桃的颜色、形状、大小等特征进行检测,进而进行分级处理,提高了工作效率的同时也降低了成本。     

Multiple Redundant Medulla Projection Neurons Mediate Color Vision in Drosophila

The receptor mechanism for color vision has been extensively studied. In contrast, the circuit(s) that transform(s) photoreceptor signals into color percepts to guide behavior remain(s) poorly characterized. Using intersectional genetics to inactivate identified subsets of neurons, we have uncovered the first-order interneurons that are functionally required for hue discrimination in Drosophila. We developed a novel aversive operant conditioning assay for intensity-independent color discrimination (true color vision) in Drosophila. Single flying flies are magnetically tethered in an arena surrounded by blue and green LEDs (light-emitting diodes). The flies’ optomotor response is used to determine the blue-green isoluminant intensity. Flies are then conditioned to discriminate between equiluminant blue or green stimuli. Wild-type flies are successfully trained in this paradigm when conditioned to avoid either blue or green. Functional color entrainment requires the function of the narrow-spectrum photoreceptors R8 and/or R7, and is within a limited range, intensity independent, suggesting that it is mediated by a color vision system. The medulla projection neurons, Tm5a/b/c and Tm20, receive direct inputs from R7 or R8 photoreceptors and indirect input from the broad-spectrum photoreceptors R1–R6 via the lamina neuron L3. Genetically inactivating these four classes of medulla projection neurons abolished color learning. However, inactivation of subsets of these neurons is insufficient to block color learning, suggesting that true color vision is mediated by multiple redundant pathways. We hypothesize that flies represent color along multiple axes at the first synapse in the fly visual system. The apparent redundancy in learned color discrimination sharply contrasts with innate ultraviolet (UV) spectral preference, which is dominated by a single pathway from the amacrine neuron Dm8 to the Tm5c projection neurons.     

Stimulus Intensity Expectation and Visual Evoked Brain Potentials

In a sample of 32 adult subjects, we examined the relationship between amplitude measures of the visual evoked potential (VEP) and a subject's expectation that a stimulus would be either brighter or dimmer than the others in a series. It was found that when subjects expected a bright light flash, the VEP waveform changed in the direction associated with a stimulus intensity increase even though no actual intensity change occurred. Conversely, when subjects expected a dim light flash, the VEP waveform changed in the direction associated with a stimulus intensity decrease even though no actual intensity change occurred. The amplitude changes to the expected stimulus intensities occurred in specific VEP peaks and were related to the position of the stimulus in the sequence.