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.     

不同低碳氮比废水中好氧颗粒污泥的长期运行稳定性

为了研究好氧颗粒污泥系统处理低碳氮比废水的长期运行稳定性,采用低碳氮比（C/N）条件下逐步增加碳氮负荷的进水方法,分别在反应器A和B中接种好氧颗粒污泥,考察其长期运行过程中的理化性质、处理性能及应对冲击负荷的稳定性.其中A反应器的碳氮比一直维持在2,而B则由4逐步降至2.结果表明,在4℃存储30d的好氧颗粒污泥,经过25d的培养,其活性基本恢复,A、B反应器化学需氧量（COD）和氨氮（NH₄⁺-N）的去除效率均达到90%以上.在其后的稳定阶段,B反应器COD和NH₄⁺-N去除率达到90%以上,实现了完全硝化;而A反应器COD去除率仅80%左右,虽然NH₄⁺-N去除率最终也达到90%以上,但仅实现短程硝化.在冲击负荷阶段,A和B反应器COD去除率仍维持在80%以上,但是NH₄⁺-N去除受到很大冲击.A反应器NH₄⁺-N去除效率恶化,B反应器仅实现了部分硝化.整个运行过程,好氧颗粒污泥的物理性质受到的影响不大,A和B反应器的污泥容积指数（SVI₃₀）分别维持在60 mL ·g^-1和75 mL ·g^-1左右,混合液悬浮固体（MLSS）在5g ·L^-1和3.7g ·L^-1左右.颗粒污泥微生物群落分析表明,B反应器相对于A反应器丰富度和多样性更高.同时B反应器具有更高丰度的Zoogloea属,在颗粒中能产生更多的胞外蛋白促使颗粒结构更稳定,保证系统的长期稳定运行.以上结果表明,与C/N为2的好氧颗粒污泥系统相比,C/N为4的系统脱碳硝化效果好,抗冲击负荷能力强,更有利于颗粒污泥的长期稳定运行.     

基于OMI数据的东南沿海大气臭氧浓度时空分布特征研究

基于臭氧监测仪(OMI)卫星反演数据,对2005—2018年东南沿海5省区域大气臭氧柱浓度数据进行提取及分析,探讨其时空分布格局及影响因素.结果表明:①在时间变化上,14年间,该区域大气臭氧柱浓度整体呈先上升后下降的趋势,2005—2013年臭氧柱浓度持续升高,最高值为324.52 DU,高值区不断向南部区域扩大;2013—2018年臭氧柱浓度呈下降趋势,最低值为228.27 DU,但在2017、2018年略有上升.②在空间分布上,臭氧柱浓度自北向南逐渐降低,高值区集中分布在江苏及浙江省北部;低值区集中于福建省南部及广东省大部分地区.③在季节变化上,大体呈现出春夏季高于秋冬季,高值区在春夏季交替出现,秋季略高于冬季,但差异不明显.④稳定性分析表明:研究区臭氧柱浓度整体呈现中部分散、南北部集聚、差异较显著的分布格局.⑤自然因素中,风向、气温均呈现显著正相关,江淮地区的梅雨季节(降水)及华南地区的台风和暴雨也起到显著作用.⑥人文因素中,臭氧柱浓度与地区生产总值、各产业生产总值及机动车保有量均表现出正相关,其中,臭氧柱浓度与第二产业的相关度最高.另外,臭氧柱浓度与NO_x排放量表现出显著相关性.VOC_s对臭氧柱浓度的影响中,工业源是主控因素,交通源和居民源次之,电厂源对臭氧柱浓度的影响最弱.这进一步说明臭氧浓度的变化受到了诸多因素的综合影响,但气温、NO_x及VOC_s的排放是臭氧浓度变化的主导因素.     

基于不同废污泥源的短程反硝化快速启动及稳定性

为探究不同废污泥源快速启动短程反硝化和实现稳定NO_2~--N积累的可行性,在3个完全相同的SBR反应器(S1、S2和S3)分别接种:实验室城市污水反硝化除磷系统排泥、城市污水厂剩余污泥及河涌底泥,比较其短程反硝化启动快慢和NO_2~--N积累特性,考察系统短程反硝化活性和NO_3~--N→NO_2~--N转化性能,并从微生物学角度分析反应器功能菌群特征.结果表明,在乙酸钠为唯一碳源、高碱度和适宜COD/NO_3~--N比进水条件下,3个SBR短程反硝化反应器在短时间内均能够成功启动,系统平均NO_3~--N→NO_2~--N转化率为S1 S2 S3(75. 92% 73. 36% 69. 90%).同时发现持续低温条件下S1和S2呈现不同程度的短程反硝化性能恶化趋势,但S3能够稳定维持良好NO_2~--N积累性能.微生物高通量测序表明,变形菌门和拟杆菌门居PD系统主导地位,3个短程反硝化反应器NO_2~--N积累关键功能菌属Thauera属丰度差异明显:S3 S1 S2(25. 09% 4. 71% 3. 60%),表明S3具备稳定高效的NO_2~--N积累性能,同时高丰度Thauera属可能是维持低温短程反硝化活性的重要原因.     

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.     

近14年西北地区甲醛柱浓度的时空变化研究

基于臭氧监测仪（OMI）卫星反演数据,对2005~2018年西北4省区域大气甲醛柱浓度数据进行提取及分析,探讨其时空变化特征及影响因素.结果表明：在时间变化上,14a甲醛柱浓度整体呈先上升后下降的波动变化趋势,夏秋季显著高于冬春季,且冬季均值略高于春季.在空间分布上,甲醛柱浓度自西向东、自北向南逐渐升高,高值区集中于陕西和甘肃东南部及青海西南部;低值区集中于宁夏、青海和甘肃的西北部;稳定性呈现出东部分散、西部集聚、差异显著的分布格局.影响甲醛柱浓度变化的因素包括自然和人为因素,自然因素中,甲醛柱浓度受地形影响显著,与风向、气温均呈现显著正相关;人为因素中,甲醛柱浓度与人口密度、地区生产总值、工业废气排放量及建筑房屋竣工面积均表现出正相关关系,与工业废气排放量的相关度最高.大气中甲醛分子与气溶胶粒子二者间呈显著正相关关系,这进一步说明甲醛浓度受到了诸多因素的综合影响,但气溶胶粒子、气温及工业废气的排放是主导因素.