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.     

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.     

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.     

机动车轮胎磨损颗粒物化学组分特征研究

为研究机动车道路行驶过程中轮胎磨损排放的颗粒物理化特性,利用轮胎轮廓仿真磨耗仪,对国内主流17种轮胎胎面进行仿真磨耗实验,获得颗粒物样品,提取并检测其中18种元素和20种多环芳烃（PAHs）的含量.结果显示,元素和PAHs含量因轮胎品牌和速度等级的不同而差异显著.18种元素平均含量为（99.04±68.43）mg/g,占样品总重的9.90%,其中Si（88.97±67.85）mg/g、Zn（6.77±1.64）mg/g和Na（1.05±0.75）mg/g的平均含量均超过1mg/g,Cd的含量最低,为（0.43±0.31）μg/g.20种PAHs含量之和（∑20PAHs）在12.13~433.64 μg/g,平均为（94.13±110.18）μg/g,PY的平均含量最高（30.98±31.27）μg/g,其次是CHR、BaP、FA、PHE和BghiP,平均含量最低的是AC（0.58±0.2）μg/g;从环数看,以4环PAHs为主（占∑20PAHs的45.03%~67.93%）,其次为3环（平均含量为15.45%）和5环（平均含量为12.62%）.总体来说,国外品牌轮胎样品中元素和PAHs含量略高于国内品牌,而主要PAHs环数略低于国内品牌.     

大兴安岭5种乔木树种燃烧释放PM2.5中水溶性元素特性

采用自主设计的生物质燃烧实验装置,在不同燃烧状态（明燃、阴燃）下,对大兴安岭林区5种典型乔木树种的不同部位（枝、叶、皮）燃烧释放PM_2.5中的水溶性元素特性进行研究.结果显示,不同树种间PM_2.5的排放因子差异显著,排放范围为（2.408±0.854）~（9.227±1.172）g/kg.5种乔木树种燃烧释放PM_2.5中主要检测到Mg、Ca、K等16 种元素,其中Ca、K、Zn、Mg 4种元素的排放因子明显大于其它元素.不同树种间元素排放因子差异较大,针叶树的排放因子一般高于阔叶树.除Cd元素外,不同器官间排放的元素总量无明显差异.不同树种不同器官燃烧释放PM_2.5中水溶性元素的占比顺序较为一致,其中Ca、K、Zn和Mg 4种元素的排放因子在枝、叶、皮中均较高.此外,燃烧状态对元素排放特征影响较大,Li、Mg、Ca等7种元素的排放因子均表现为明燃显著高于阴燃.     

哈尔滨近地面O3浓度特征

伴随着经济发展和城镇化进程的加速,很多城市的臭氧浓度存在超标问题.本文选取2014—2017年哈尔滨城区污染数据及气象要素数据,对哈尔滨近地面层O_3时空分布特征及其与气象要素的关系进行了分析,结果表明:哈尔滨O_3日内单峰分布,最高值出现在下午14:00,最低值在清晨7:00.空间分布东南部最高,其次是南部,城中区较低.日间周末的近地面O_3浓度较高,而夜间工作日的O_3浓度较高.哈尔滨O_3浓度与平均气温正相关,与相对湿度负相关,与低于37 W·m~(-2)的紫外辐射正相关.     

植物遗传资源保护与利用的市场化机制和国际制度

随着植物物种资源的不断减少和因生物技术迅猛发展对植物遗传资源需求的不断增加 ,植物遗传资源正逐步由公共物品转变为稀缺物品。坚持《生物多样性公约》所确立的遗传资源效益公平分享原则 ,完善现有国际多边体系 ,促进以“遗传编码功能”价值概念和遗传资源保护效应“内部化”与“补偿”方案为基础的植物遗传资源市场化保护与利用机制的形成 ,建立“植物遗传资源交易所”和“生物多样性合作社” ,将有助于提高世界各国尤其是发展中国家保护植物遗传资源的积极性 ,实现全球植物遗传资源的可持续利用