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。     

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.     

Effect of Habitat Fragmentation and Isolation on the Population of Alpine Musk Deer

The alpine musk deer (Moschus chrysogaster) is a key species of some terrestrial ecosystems, it has an important economic and conservative significance as a kind of medical animal in China. Due to the interaction between natural forces and human disturbance, the habitats of alpine musk deer are fragmented and isolated in different mountains and the populations are confronted with many problems of survival. In this paper, we discuss the impact of habitat fragmentation and isolation on alpine musk deer populations based on the investigation on the population densities and sizes and environmental factors in different reserves, as well as on the analysis of its ecological adaptability. We found that the alpine musk deer has strong ecological adaptability; the population development of alpine musk deer may benefit from the reduction of the forest area and even from the fragmentation and isolation of the habitat to a certain extent. However, deforestion should not be encouraged only for the alpine musk deer population, but should also be based on the overall consideration of biodiversity conservation.     

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.     

区域水战略方案选优的动态组合评价模型研究

水安全危机是人类进入新世纪以来在生存及发展方面所面临的最严重挑战之一。研究科学合理的水安全战略成为区域可持续发展的重大课题。针对区域水战略问题涉及众多因素且各因素之间动态关联的特点，提出了基于水战略方案优选的兼容度极大化动态组合评价模型（CMM—DCEM），并将其成功地应用于我国广东省北江下游及其三角洲地区水安全战略方案优选评价。评价结果及模型基于不确定性的敏感性分析结果证明：CMM—DCEM实现了主、客观赋权方法以及单一评价模型的融合，使用实码加速遗传算法求解目标函数，克服了传统的组合评价方法计算繁琐的不足，评价过程更加科学合理。     

基于改进遗传算法的河流水污染源反演方法

针对河流水污染应急响应过程中污染源排放历史迟知、未知的问题,结合多种群遗传算法和自适应遗传算法,利用一维河流水质模型和水质监测数据,研究建立了基于改进遗传算法的河流水污染定量源反演方法,实现了对河流污染源排放历史的识别与重构.将该方法应用于美国特拉基河流的3个不同流量下的示踪剂实验中,对示踪剂排放历史进行定量源反演分析.结果表明：IGA算法对高、中、低不同流量下的3次示踪剂实验均可以很好的重构和识别示踪剂排放历史,对于实际河流水污染源反演分析的误差均在可接受范围内.IGA算法在河流水污染源反演分析中具有一定的可靠性和稳定性,可为河流水污染精准溯源与治理提供科学的技术支撑.     

液-弹隔振器设计与试验分析

目的开展液-弹隔振器的设计及试验验证。方法基于反共振原理建立的液-弹隔振器动力学分析模型,推导了其动力学方程。结果建立了液弹隔振器隔振频率与相关参数的关系,依据相关参数完成了液-弹隔振器的设计,并进行了液-弹隔振器动力学性能相关试验,利用动刚度测试法和传递率测试法验证了液-弹隔振器性能,试验验证了液-弹隔振器高静态刚度和隔振频率点下的低动态刚度特点。结论实现了液-弹隔振器的设计,同时液弹隔振器在隔振频率点下达到60%的减振效果。