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.     

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。     

CDM in the Kyoto Negotiations:

The Clean Development Mechanism (CDM) under the Kyoto Protocol to the UN Framework Convention on Climate Change (UNFCCC) has its origins in the decade of UNFCCC negotiations. ‘Joint implementation’ and ‘activities implemented jointly pilot’ opened the door for the project-based mechanisms between developed and developing countries. The US proposal of the Joint Implementation in the Kyoto Protocol negotiations was almost identical with CDM approved in Kyoto; however, a detour around the Clean Development Fund (CDF) concept raised by Brazil in the negotiations catalyzed the mutual understanding on the win-win nature of the concept of joint implementation.CDM has been played an important role to bridge the developed and developing countries in its development process initiated as the joint implementation in the UNFCCC, and can lead to the cooperative future in the implementation stage starting from the year 2003, including the development of future commitments beyond 2013. This revised version was published online in August 2006 with corrections to the Cover Date.     

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.     

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.     

论环境产业

本文在可持续发展视角下,把环境的保护、修复、维护的生产活动及与之直接相关的服务活动称为环境产韭,包括发挥减少、避免污染环境作用的资源再利用鼗和发挥治理污染物与修复、改善环境作用的环境维护业.通过探讨环境产业的内涵、发展历程、运行机制和在产业体系中的位置与作用,指出环境产业是在法规保障下政府强行推动产生和发展起来的,是产业体系中不可缺少的重要组成部分;考虑自然环境对社会行为的影响,改进政府行为构建适台环境产业与传统产业协调发展的经济体制是加快发展环境产业的关键.     

论土地持续利用

在世界上有两种可持续发展思路，一种是西方发达国家的重保护的可持续发展思路；一种是以发展为前提，保护自然资源的可持续发展思路。土地持续利用的思想是在可持续发展的进程中不断发展的。我国要保证土地持续利用，满足未来对食粮和建设的需求，应建立起同土地持续利用相适应的土地持续利用制度和土地持续利用机制     

硫化亚铁处理含砷废水中砷的形态变化

本文对用硫化亚铁处理含砷废水时，在气相、液相和固相中砷的形态进行了研究结果表明，在气相中无ＡａＨ３，但在Ａｓ（Ｖ）废水的液相中有Ａｓ（Ｖ）和Ａｓ（Ⅲ）共同存在，在固相中有Ａｓ（０），ＦｅＡｓＯ４（ＦｅＡｓＯ３），Ａｓ２Ｓ３（Ａｓ２Ｓ５）和吸附砷，砷的形态变化表明，硫化亚铁处理含砷废水能取得良好的效果，是沉淀、沉淀转化、氧化还原、吸附共沉淀和中和五种反应共同作用的结果。     

省以下生态转移支付制度环境保护激励效应

现有文献认为生态转移支付具有基本公共服务均等化与提升地方生态环境质量双目标,而目标的多样性会影响地方财政转移支付资金效果及目标的实现。文章基于环保支出和农林水支出的中介与调节效应,对生态转移支付的生态环境目标进行了理论分析,利用2010—2018年甘肃、贵州、湖北及河南四省的199个县的面板数据进行实证检验。实证研究表明:在样本期内,生态转移支付促进了地方生态环境质量的提升,中介效应和调节效应模型的结果表明,中国地方生态转移支付资金对辖区环境保护效果中,环境保护支出起到部分中介效应,农林水支出不仅调节了生态转移支付的地方环境保护支出效果,而且调节了环境保护支出对地方环境质量的影响。因此,由于地方政府具有环境治理信息优势,省以下制度目标更能体现辖区生态需求,省对县生态转移支付制度会有效促进地方生态环境质量的改善,环保激励效应较为明显。同时,县级地方政府应该逐步摆脱"先污染后治理"的路径依赖,逐步转向经济与环境"双目标协同发展"模式。为了协同生态转移支付的双目标,"自下而上参与式决策"可以作为环境治理的有益补充,通过地方政府多元化实践改善环境质量。