Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis

Tuberous sclerosis (TSC) is a frequent autosomal-dominant condition (affecting 1 in 6000 individuals) caused by various mutations in either the hamartin (TSC1) or the tuberin gene (TSC2). This allelic and non-allelic heterogeneity makes genetic counseling and prenatal diagnosis difficult, especially as a significant proportion of TSC cases are due to de novo mutations. For this reason the identification of the disease causing mutation is mandatory for accurate counseling, yet current mutation detection methods such as single-strand conformation polymorphism (SSCP) or denaturing gradient gel electrophoresis (DGGE) are labor intensive with limited detection efficiency. Denaturing high-performance liquid chromatography (DHPLC) is a high-throughput, semi-automated mutation detection system with a reported mutation detection rate close to 100% for PCR fragments of up to 800 bp. We used a recently described DHPLC assay allowing the efficient detection of mutations in TSC1 to analyze the DNA extracted from a chorion villus sample in order to perform a prenatal diagnosis for TSC. The fetus was found not to have inherited the deleterious mutation and the DHPLC diagnosis was confirmed by haplotype analysis. This represents the first DHPLC-based prenatal diagnosis of a genetic disease. Copyright © 2001 John Wiley & Sons, Ltd.     

Design training and aesthetic evaluation: An intergroup comparison

A number of studies have observed differences in the evaluation of visual, aesthetic stimuli between those with and without professional training in art and design. If exposure to design training underlies such differences it follows that evidence of training effects should be observable when comparing subjects at different stages of design training, and not observable when comparing subjects at different stages of non-design training. In addition, this evidence should be consistent with directional predictions. The study reported in this paper investigated this question using a sample of 192 trained and untrained subjects in an evaluative task. Subjects were from two departments (Design and Computer Studies) of the same educational establishment and comprised balanced groups of lecturers, 1st, 2nd and 3rd year undergraduate students. The results obtained demonstrated evaluative differences and patterns of association both within and between the subject groups consistent with a training hypothesis.     

The behavioral component in the meaning of places

How do people think about the physical setting in the world around them? Part of the answer to this question may be in terms of the behaviors that occur there. To explore people's knowledge of behavior—place associations, twenty places (shown via color photographs) were assessed in five ways: (a) ratings of the place's suitability for each of eleven behaviors, (b) ratings of the expected frequency of occurrence of the eleven behaviors, (c) free listings of reasons for going to each place, (d) free listings of activities-while-there and (e) free listings of activities associated with the place. Results showed that people can distinguish places on the basis of behaviors, that the behavioral component of place meaning is composed of distinct aspects, and that knowledge of behavior is related to a global, overall representation of a place.     

基于改进灰色模型的管壁蜡沉积厚度预测研究

为对含蜡原油管道中的蜡沉积厚度进行准确预测,在函数cot(x2)变换的基础上,结合平移变换思想,利用cot(x2+c)变换建立新的改进GM(1,1)模型。以现场管道结蜡数据和室内环道结蜡数据为例,对比改进GM(1,1)模型、基于函数cot(x2)变换建立的GM(1,1)模型及传统GM(1,1)模型之间的预测精度,并分析平移量c对改进GM(1,1)模型预测精度的影响。结果表明:改进GM(1,1)模型的预测精度最高,其次是基于函数cot(x2)变换建立的GM(1,1)模型,而传统GM(1,1)模型的预测精度最低;随着平移量的增大,改进GM(1,1)模型的平均相对预测误差呈现出先减小后增大的趋势,因此合理的平移量有助于模型精度的提高。应用改进GM(1,1)模型来预测管道蜡沉积厚度是可行的,该方法可为含蜡原油管道蜡沉积厚度的准确预测提供参考和借鉴。     

转cry1Ab基因水稻中毒蛋白的表达、分泌及其在土壤中的残留

研究了转cry1Ab基因水稻(克螟稻)中Cry1Ab毒蛋白的表达、根系分泌及其在土壤中的残留规律.结果表明,分蘖始期至成熟期,克螟稻地上部和根部中的Cry1Ab毒蛋白的表达量(FW)分别为3.23～8.22 μg/g和0.68～0.89 μg/g.生育期间克螟稻根系分泌的Cry1Ab毒蛋白含量仅为1.66～48.02 ng/(株·d).试验证实,克螟稻根际土中的Cry1Ab毒蛋白残留含量低于检测限(<0.5ng/g 干燥土).生物测定还表明,克螟稻根际土及其提取液对棉铃虫初孵幼虫和3龄幼虫不产生致死性效应.相对于Cry1Ab毒蛋白的根系分泌转移,克螟稻秸秆还田对土壤环境的影响应引起重视.     

管制员安全能力模型研究

为准确评价管制员安全能力,基于能力的定义和管制员工作职责,界定管制员安全能力的内涵;依据该内涵及其工作特性,建立由身体素质、业务素质和意识3个结构维度组成的管制员安全能力模型。其中,身体素质包括生理状况和心理状况;业务素质包括教育状况、培训状况、技能状况和经验状况;意识包括安全意识和工作意识。在各项指标性质差异较大情况下,利用功效系数法实现评价指标的标准化以减小误差,客观反映指标情况,同时采用G1-法和熵值法集成的主客观综合赋权法确定指标的权重,在一定程度上弥补主客观单一赋权的不足,最后通过逼近理想解排序法(TOPSIS)评价管制员安全能力。结果表明,按照从大到小排序对管制员安全能力的影响因素依次为意识、身体素质和业务素质。就对所论能力的影响而言,心理状况强于生理状况;技能状况强教育、培训和经验状况;安全意识对意识的影响大于工作意识。     

南京地区污水厂、自来水厂及长江水域MCR-1和NDM-1携带菌耐药特征

为了研究以多粘菌素耐药基因(MCR-1)和新德里金属β-内酰胺酶-1基因(NDM-1)携带菌为代表的"超级细菌"在地表水中的环境行为,以长江南京段典型水域及邻近城市污水厂和自来水厂为研究对象,考察了MCR-1和NDM-1携带菌的耐药特性及其变化特征。结果发现,污水厂进水和生物处理单元2种细菌耐药能力均处于较高水平,随处理流程呈降低趋势,至消毒出水中不再被检出。长江中MCR-1携带菌耐粘菌素的半抑制浓度(EC50)较高,平均达37.89 mg·L-1,顺水流方向无显著降低。仅在下游朱家山河汇入口和长江大桥附近滨江公园检出较高耐药水平的NDM-1携带菌。2种细菌耐药水平受水体污染程度和人类活动影响较明显。自来水厂MCR-1携带菌数目较少,但其EC50平均可达32.75 mg·L~(-1),常规处理单元中未检出NDM-1携带菌。水处理工艺显著降低了细菌耐药水平,但排泥水中2种细菌均检出,且耐药水平相比进水显著提高。本研究可为评价水介质中超级抗性基因及其携带菌的环境风险提供参考。