Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markers

Fragile X syndrome is the most common cause of familial mental retardation. The most common mutation is expansion of a triplet (CGG)_n repeat in the 5′ untranslated region of the FMR1 gene on Xq27.3. The expansion is refractory to PCR due to preferential amplification of the smaller allele in heterozygous cells and the high GC content of the repeat and surrounding sequences. Direct detection of the normal parental alleles in preimplantation embryos has been used for preimplantation genetic diagnosis (PGD) of this disorder. However, this approach is only suitable for approximately 63% of couples due to the heterozygosity of the repeat in the normal population. As an alternative we investigated the use of polymorphic markers flanking the mutation to track the normal and premutation carrying maternal chromosomes in preimplantation embryos. Using a panel of 11 polymorphisms, six (CA)_n repeats and five single nucleotide polymorphisms, diagnosis was developed for 90% of referred couples. Multiplex amplification of informative markers was tested in 300 single buccal cells from interested couples with efficiency and allele drop out (ADO) rates ranging from 69% to 96% and 6% to 18%, respectively. Use of this approach is accurate and applicable to a larger number of patients at risk of transmitting fragile X to their offspring. Copyright © 2001 John Wiley & Sons, Ltd.     

A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis

Single cell polymerase chain reaction (PCR) for preimplantation genetic diagnosis (PGD) requires high efficiency and accuracy. Allele dropout (ADO), the random amplification failure of one of the two parental alleles, remains the most significant problem in PCR-based PGD testing since it can result in serious misdiagnosis for compound heterozygous or autosomal dominant conditions. A number of different strategies (including the use of lysis buffers to break down the cell and make the DNA accessible) have been employed to combat ADO with varying degrees of success, yet there is still no consensus among PGD centres over which lysis buffer should be used (ESHRE PGD Consortium, 1999 ). To address this issue, PCR amplification of three genes (CFTR, LAMA3 and PKP1) at different chromosomal loci was investigated. Single lymphocytes from individuals heterozygous for mutations within each of the three genes were collected and lysed in either alkaline lysis buffer (ALB) or proteinase K/SDS lysis buffer (PK). PCR amplification efficiencies were comparable between alkaline lysis and proteinase K lysis for PCR products spanning each of the three mutated loci (ΔF508 in CFTR 90% vs 88%; R650X in LAMA3 82% vs 78%; and Y71X in PKP1 91% vs 87%). While there was no appreciable difference between ADO rates between the two lysis buffers for the LAMA3 PCR product (25% vs 26%), there were significant differences in ADO rates between ALB and PK for the CFTR PCR product (0% vs 23%) and the PKP1 PCR product (8% vs 56%). Based on these results, we are currently using ALB in preference to PK/SDS buffer for the lysis of cells in clinical PGD. Copyright © 2001 John Wiley & Sons, Ltd.     

构筑防灾科技学院学生文化体系

文章从四个方面阐释学生文化体系的构成，即重在打基础，鼓励学生个性化发展；培植防灾学院自己的学生文化“精英”；创新与创业是学生文化的闪光点；培育一个好的学生文化的管理环境。做到此四点，就可办一个好的、有特点的、合格的高等学校。本文有的放矢，用事实来说话。     

Information technologies and the sharing of disaster knowledge: the critical role of professional culture

A comparative survey of a diverse sample of 96 US and Italian emergency management agencies shows that the diffusion of new information technologies (IT) has transformed disaster communications. Although these technologies permit access to and the dissemination of massive amounts of disaster information with unprecedented speed and efficiency, barriers rooted in the various professional cultures still hinder the sharing of disaster knowledge. To be effective the available IT must be attuned to the unique settings and professional cultures of the local emergency management communities. Findings show that available technology, context, professional culture and interaction are key factors that affect the knowledge transfer process. Cultural filters appear to influence emergency managers' perceptions of their own professional roles, their vision of the applicability of technology to social issues, and their perspective on the transferability of disaster knowledge. Four cultural approaches to the application of IT to disaster communications are defined: technocentric; geographic,; anthropocentric; and ecocentric.     

Spatial and Temporal Variations in Trace Metal Concentrations in the Cockle, Austrovenus Stutchburyi from Otago, New Zealand

This is the first comprehensive study of sources of variation in metal concentrations within the whole tissues of a shallow burrowing, filter-feeding intertidal clam, Austrovenus stutchburyi. Samples were collected from 12 sites in April, August, November and February in 1993–1994 in the vicinity of Otago Harbour and Peninsula, New Zealand. Total tissue trace metal concentrations (μg g⁻¹ dry weight) were measured in individual animals for the essential metals : Mn, Cu, Zn, Ni and the non-essential Cr using trace-metal clean acid-digestion and ICP-OAES techniques. Average metal concentrations were 3–60 μg g⁻¹ for Cu, 40–118 μg g⁻¹ for Zn, 2–12 μg g⁻¹ for Mn, 5–35 μg g⁻¹ for Ni and 1–44 μg g⁻¹ for Cr. These levels decreased with body weight and differed amongst sites except for Cr in February (mid-summer). Highest concentrations occurred at sites close to a city (Dunedin) and within the central harbour region although the Cu, Zn, Ni and Cr concentrations did not correlate with the environmental gradient or season. At one coastal site, samples of both the blue mussel Mytilus galloprovincialis and cockles gave similar trends in trace metal levels. These results suggest that the cockle could be a useful trace metal biomonitor within NZ estuaries.     

企业安全文化评估与企业安全行为的质化研究

通过总结国内外各种不同的安全文化概念,归纳分析了国内外较为流行的近10种安全文化建立模式。在研讨文献的基础上,通过深入访谈、焦点小组与参与观察,归纳构造了一套共11个维度,总题项为152题的安全文化评估量表。通过对选定企业的实证问卷调查,进行统计分析,采用多元逐步回归分析等方法对安全文化各评核因素及整体安全文化进行预测,并以百分数呈现其整体的安全文化现状水平。通过基于扎根理论的各种质化研究方法,对案例企业的安全文化建设和企业安全行为进行研究,得到了7点关于企业安全行为的研究发现,并提出了相应的改进建议。     

Sustainability: a Dissent

Abstract:  Broadly conceived and considered in its many usages, sustainability has grave defects as a planning goal, particularly when used by conservationists: it confuses means and ends; it is vague about what is being sustained and who or what is doing the sustaining; it is uninspiring; it is little more than Pinchot-era conservation (and thus ignores the many lessons learned since then); it need not be linked to land, to the land's functioning, or to any ecological science; it need not include a moral component; it is consistent with the view of humans as all-powerful manipulators of the planet; and, in general, it is such a malleable term that its popularity provides only a facade of consensus. When sustainability is defined broadly to include the full range of economic and social aspirations, it poses the particular risk that ecological and biodiversity concerns will be cast aside in favor of more pressing human wants. Given these many defects, the conservation movement should discard the term in favor of a more alluring goal, attentive to nature and its ecological functioning. A sound goal would incorporate and distill the considerable ecological and moral wisdom accumulated since Pinchot's day while giving conservationists the rhetorical tools needed to defend the land against competing pressures. In our view, conservation would be well served by an updated variant of "land health," Aldo Leopold's ecologically grounded goal from the 1940s. Land health as an independent understanding should set the essential terms of how we live and enjoy the earth, providing the framework within which we pursue our many social and economic aims.     

农闲期城郊农田灌溉水中典型污染物含量与评价——以西北江三角洲为例

摸查了农田灌溉系统水环境经农（夏）闲期降水等外部强干预调理后的环境污染物含量——该值理论上是环境自净作用之后的最不利值,对农田灌溉系统水环境进行水质评价,探究其对农田土壤质量的潜在污染风险.于2019年6月中旬—7月下旬（降雨集中期）,分别在西北江三角洲城市（清远市、佛山市和江门市）实验基地周边筛选研究区,并在雨后对有覆水的水源区域、灌渠、蓄水池和田间水等采集上覆水,共采得水样27×2份,对其pH值、悬浮物（SS）、矿化度、总磷（TP）、氨氮（NH₄⁺-N）、Cd、As、Pb、Cu和Zn的含量进行检测;对各研究区pH值、SS的成因和影响,矿化度的等级,重金属均值分布等进行分析;对全样品TP、NH₄⁺-N、重金属含量进行Pearson相关性分析和描述性特征分析;通过单因子水质标识指数P_i和综合水质标识指数P分别对各采样点、各构成项目和各研究区进行水质评价.研究发现雨后农田灌溉系统水环境构成复杂,物质呈无显著性差异的迁移,灌溉沿程上覆水中大部分物质可能处于动态平衡,受局部环境影响变小,TP、NH₄⁺-N和重金属等迁移物质主要还是灌溉水体中原有的,受外力驱动扰动后在水动力作用下可能以氮磷结合形态沿灌溉系统发生远距离迁移;使用河流水质标识指数法评价农田灌溉系统水环境,发现该法可以刻画局部灌溉的水质态势,对农田灌溉系统水环境的含量特征评价做出科学、合理的解释,也可以做出综合性定量评价.虽然灌溉水系统结构差异较大,但是从整体上可以初步得出农闲期西北江三角洲农田灌溉水的灌溉风险不高的结论,总体综合水质评价级别为Ⅰ类~Ⅱ类,达到水环境功能区的使用要求.     

Removal and desorption of chromium in synthetic effluent by a mixed culture in a bioreactor with a magnetic field

Two chromium removal experiments were performed in bioreactors with and without a magnetic field under the same conditions.The release of the chromium present in the biomass was tested in two experiments one with the initial pH of the medium and one with pH 4.0.The objective was to remove Cr(Ⅵ) and total Cr from the effluent,this was carried out by placing biological treatments of synthetic effluent contaminated with 100 mg/L of Cr(Ⅵ) in a bioreactor with neodymium magnets that applied a magnetic field(intensity85.4 mT) to the mixed culture.The removal of Cr(Ⅵ) was approximately 100.0% for the bioreactor with a magnetic field and 93,3% for the bioreactor without a magnetic field for9 hr of recirculation of the synthetic effluent by the bioreactor.The removal of total Cr was61.6% and 48.4%,with and without a magnetic field,respectively;for 24 hr.The desorption of Cr(VI) in the synthetic effluent was 0.05 mg/L,which is below the limit established by Brazilian legislation(0.1 mg/L) for the discharge of effluent containing Cr(Ⅵ) into bodies of water.The results obtained for the removal of chromium in synthetic effluent suggested that there was no significant influence on the viable cell count of the mixed culture.The desorption of Cr(Ⅵ) in synthetic effluent after bioadsorption of chromium by the mixed culture in the process of removal of chromium in bioreactors with and without a magnetic field was not significant in either of the experiments with different initial pHs.     

长江口海域生态环境状况及保护对策

为加快推进长江口海域的生态环境保护和修复工作,结合长江经济带大保护,系统总结分析了近20年长江口环境质量和生态监控区的监测结果.结果表明:①长江口海域生态系统长期处于亚健康状态.②长江径流总量呈现波动变化,年均流量无明显的变化,而长江口海域海水环境状况一直较差.③营养盐污染严重,主要污染物是无机氮和活性磷酸盐;浮游生物和底栖生物群落结构不稳定,存在生境破碎化严重、外来生物入侵、赤潮频发、低氧区等诸多生态问题.为加强长江口海域生态环境的保护与修复,建议:①加强顶层设计,推进落实陆海统筹;②科学规划临港产业布局,加强涉海产业的污染管理;③加强污染物入海排放管控,提升海洋环境保护意识;④保障海洋生态建设资金,强化海洋生态保护与建设.