"十三五"国家自然科学基金对能源环境管理领域的资助状况和趋势

能源环境管理是各界关注的热点话题,也是科学研究的重要方向.以国家自然科学基金资助能源环境管理领域的科研项目为基础数据信息,本文重点分析了"十三五"期间国家自然科学基金在该领域资助项目的总体特征、研究主题和热点变化,并结合新时代科学基金资助导向提出了可能的发展趋势.主要结论包括:①能源环境管理领域面上、青年、地区等自由探索类项目的立项绝对数和学科占比均呈上升趋势,并更多向青年学者倾斜,资助强度保持稳定;②碳、能源和环境是自由探索项目中出现频率最高的热词,与之相关的研究主题随着政策等调整具有动态变化特征;③能源环境管理领域重点、重大等引导类项目和优青、杰青、创新研究群体等人才类项目不断实现突破,增速明显,学科占比优势突出;④问题导向与本土情景、理论体系和一般规律、学科交叉融合,以及市场和微观主体作用是研究选题确立与项目申请时可能需要重点关注的方向.     

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.     

氢氟酸的污染与防治

综述氢氟酸烷基化装置，运行过程中氢氟酸的危害，污染源的分析，防治措施及取得效果．     

长江流域的昆虫病毒资源及其开发利用

在长江流域已发现约１３０种昆虫病毒，其中多数属杆状病毒科。昆虫病毒作为杀虫剂在本地区广泛应用，防治棉花、森林、茶树、蔬菜和牧草上的害虫，克服了化学农药的一些缺点，取得了良好的生态效益和经济效益。近年来还进行了杆状病毒表达载体的研究，该系统的研制已用于高水平表达具有生物活性的外源基因产物，获得医药产品，或者组建更有效的基因工程病毒杀虫剂。     

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.     

西藏农村能源消费及环境影响研究

西藏农村人口现有220多万，占全区总人口80％以上，农村经济落后，城乡差距很大。西藏农村能源资源主要有水力、地热、太阳能、风力、林木和畜粪等，煤炭、石油、天然气等高热值的优质能源很少。在这种经济发展水平及能源资源基础条件下，农村能源消费中高热值的现代能源比重很低，主要以生物质能如薪柴、牛粪、草皮等为主。这种低水平的能源消费结构已经对西藏脆弱的生态环境造成了巨大的破坏，西藏未来的能源发展战略迫切需要改变农村目前的消费结构，应发展太阳能、风能、农村小水电及输入高热值的化石能源替代目前生物质能的消费，减少因能源消费对西藏生态环境的破坏。     

可持续旅游及其区域实现途径探讨—以井冈山风景名胜区为例

可持续旅游是 80年代中期以后提出的关于旅游业发展的新思想。经过十多年的不断拓展深化 ,已经得到世界各国的广泛认同 ,并作为跨世纪旅游业发展的战略指导思想。本文从可持续旅游的由来和对可持续旅游内涵实质的界定角度出发 ,结合可持续旅游实现途径的探讨 ,以井冈山风景名胜区为例 ,对风景区旅游业可持续发展进行了深入的探讨 ,为景区的发展规划提出了战略性构想 ,以期能对井冈山风景名胜区旅游资源的可持续利用和旅游业的可持续发展起到抛砖引玉的作用     

水资源条件约束下西北农村地区生态经济发展对策

西北地区生态脆弱，社会经济发展相对落后。农业在全区经济中占有重要的地位，所以农村地区可持续发展对于实现西北地区可持续发展具有重要意义。通过分析西北地区水资源现状及特点和本区农村社会、经济发展现状，认为西北地区水资源严重缺乏，干旱化趋势将长期存在；农业结构不合理，乡镇工业污染严重、城镇化进程缓慢是制约本区农村地区可持续发展的主要因素。在此基础上，提出了在水资源严重缺乏条件下西北农村地区实现生态经济可持续发展的具体对策：积极调整农业结构，大力发展节水农业和推进农业产业化；加强小城镇社区生态环境基础设施建设，实施城镇化发展战略和乡镇企业可持续发展；建设生态型的小城镇，建立农村地区新型生态能源结构，加强小流域综合治理是改善农村生态环境和实现农村地区生态经济可持续发展的有效途径。     

湖北省土地资源遥感调查与评价

根据1999年TM影像解译了湖北省土地利用现状，然后以土地利用现状图为基础，采用地理信息系统技术，结合湖北省的实际情况，选择土壤、地形、坡度等评价因子，对湖北省土地资源进行了适宜性评价，简要地将全省土地资源划分为九等。评价结果表明：湖北省水热条件好，土地适宜性广，宜农林牧业同时利用的土地广泛分布；但是该省的基本农田面积小，土地垦殖率高，低产田面积大，后备耕地资源严重不足；土地利用结构与土地资源的供给条件、利用要求不相适宜，利用效益末得到充分发挥。     

Fetal cardiac anomalies and genetic syndromes

Cardiac anomalies may occur in isolation or can be part of a genetic syndrome. In this article, we describe some of the genetic syndromes commonly associated with cardiac anomalies where there are other sonographic features that may aid accurate prenatal diagnosis. Copyright © 2004 John Wiley & Sons, Ltd.