Prenatal diagnosis of an extra der(4) resulting from a complex maternal chromosome translocation

We report the prenatal diagnosis of an extra der(4) resulting from 4:2 malsegregation of a maternal balanced complex translocation involving chromosomes 4, 10, and 11. The woman was referred for amniocentesis because of recurrent miscarriages. Fluorescence in situ hybridization was performed in order to characterize the complex chromosome rearrangement. Following genetic counselling, the couple decided to terminate the pregnancy. Copyright © 2004 John Wiley & Sons, Ltd.     

Fluorescence in situ hybridization (FISH) for rapid detection of aneuploidy: experience in 911 prenatal cases†

Fluorescence in situ hybridization (FISH) was performed with probes specific for chromosomes 13, 18, 21, X and Y on 911 of 11123 (8.2%) amniotic fluid samples submitted to the present authors' laboratory for cytogenetic analysis over an 8-year period. Altogether 3516 hybridizations were performed with an interpretable FISH result on all chromosomes requested in 884/911 (97%) of cases. An uninformative FISH result occurred in 44 hybridizations among 27 cases (3%). Of a total of 89 karyotypically proven cases with aneuploidy that might have been detected by FISH, the overall detection rate was 84%. An inconclusive or incomplete FISH result occurred in 9/89 (10%) of these proven aneuploid cases. In the remaining 80 informative proven aneuploid cases, correct detection of aneuploidy was accomplished in 75/80 (94%) of samples. A false-negative result occurred in the remaining 5/80 (6%) of such informative cases. Eighteen cases had karyotypically proven abnormalities that could not have been detected by the targeted FISH. Aside from these 18 cases, FISH allowed correct detection of normal disomy in 785/804 (98%) of such cases. An incomplete FISH result occurred in 18 normal disomic cases. There was a single possible ‘false-positive’ FISH result for chromosome 21. Interphase FISH analysis of uncultured amniotic fluid cells has been shown to be a useful laboratory tool for rapid fetal aneuploidy screening during pregnancy. As with all clinical laboratory diagnostic tests, incomplete or inconclusive results (or even interpretive errors) occur in a small percentage of cases. Nevertheless, FISH results accompanied by other data and by appropriate counseling provide clinicians and patients with valuable information for clinical decision-making surrounding family planning and pregnancy management. Copyright © 2001 John Wiley & Sons, Ltd.     

Development of a biobarrier for the remediation of PCE-contaminated aquifer

The industrial solvent tetrachloroethylene (PCE) is among the most ubiquitous chlorinated compounds found in groundwater contamination. The objective of this study was to develop a biobarrier system, which includes a peat layer to enhance the anaerobic reductive dechlorination of PCE in situ. Peat was used to supply primary substrate (electron donor) continuously. A laboratory-scale column experiment was conducted to evaluate the feasibility of this proposed system or PCE removal. This experiment was performed using a series of continuous-flow glass columns including a soil column, a peat column, followed by two consecutive soil columns. Anaerobic acclimated sludges were inoculated in all three soil columns to provide microbial consortia for PCE biodegradation. Simulated PCE-contaminated groundwater with a flow rate of 0.25 l/day was pumped into this system. Effluent samples from each column were analyzed for PCE and its degradation byproducts (trichloroethylene (TCE), cis-dichloroethylene (cis-DCE), vinyl chloride (VC), ethylene (ETH), and ethane). Results show that the decrease in PCE concentrations and production of PCE byproducts were observed over a 65-day operating period. Up to 98% of PCE removal efficiency was obtained in this passive system. Results indicate that the continuously released organics from peat column enhanced PCE biotransformation. Thus, the developed biobarrier treatment scheme has the potential to be developed into a cost-effective in situ PCE-remediation technology, and can be utilized as an interim step to aid in system scale-up.     

Chorionic villus metaphase chromosomes and interphase nuclei analysed by chromosomal in situ suppression (CISS) hybridization

Metaphase chromosomes and interphase nuclei of chorionic villus samples (CVS) in five cases were studied after treatment with trypsin and post-fixation in formaldehyde by chromosomal in situ suppression (CISS) hybridization. Our modified protocol enables the use of in situ hybridization. techniques on CVS preparations after 42 h ofculture. A balanced translocation and trisomy 13 were identified with the aid of CISS hybridization.     

沈阳市2000年环保工作目标及主要任务

在明确沈阳市 2 0 0 0年环保工作的指导思想后 ,着重就确保 2 0 0 0年“一控双达标”和“九五”计划目标的实现所确定的环保工作目标和为实现这一目标应完成的 10项工作任务作了较详尽地阐述。     

宁南山区两种灌木林土壤矿化过程中PLFA指纹季节变化特征

研究土壤矿化过程中土壤微生物群落结构的变化特征,对深入理解土壤中物质转化和养分迁移机理、提高土壤质量具有重要意义.因此,本文以宁南山区典型的两种人工灌木林-柠条和山桃林地土壤为研究对象,采用PVC顶盖埋管法进行1年的原位矿化实验,每隔2个月采样测定土壤基本理化性质和磷脂脂肪酸(Phospholipid fatty acid,PLFA)含量,探讨土壤在矿化过程中微生物群落结构的变化特征.结果显示:土壤矿化过程中,柠条林地土壤有机碳、全氮、硝态氮、铵态氮和土壤含水率显著高于山桃林地(p0.05);两种灌木林地有机碳含量在矿化240 d和360 d时较低,显著小于其他矿化时期(p0.05),硝态氮、铵态氮含量均在矿化240 d时最低,全氮和土壤pH随时间变化不显著.柠条林土壤各菌群PLFA含量高于山桃林土壤;两种土壤各菌群PLFA随矿化时间大体呈现出夏季春、秋季冬季的趋势,且差异显著(p0.05);土壤细菌与真菌、革兰氏阳性(GP)和阴性菌(GN)的PLFA比值差异显著(p0.05),柠条林土壤细菌与真菌PLFA比值随矿化时间呈现出夏、秋季春、冬季的趋势,而山桃林土壤细菌与真菌PLFA比值在冬季最低,两种土壤革兰氏阳性和阴性菌PLFA比值在春季最大.PLFA主成分分析表明,柠条和山桃林土壤微生物群落结构不同,并且土壤微生物群落结构随矿化时间逐步发生变异,微生物结构的变化主要由以16∶0、16∶1ω9c、16∶1ω9t、17∶0、10Me18∶0和cy19∶0所代表的细菌及以18∶2ω9,12c所代表的真菌的变化引起.土壤微生物PLFA与土壤有机碳、硝态氮和土壤含水率显著相关,与土壤pH值不相关,说明土壤微生物PLFA与土壤理化性质联系紧密.     

通风填埋层原位脱氮:回灌渗滤液和垃圾组成的影响

为研究不同的垃圾组成和回灌渗滤液性质对间歇通风填埋层原位脱氮的影响,在固定的间歇通风条件下,对新鲜垃圾填埋渗滤液自身回灌、分别以新鲜和部分稳定渗滤液回灌部分稳定垃圾填埋层的氮转化过程进行了模拟实验.结果表明:新鲜垃圾填埋渗滤液自身回灌的氮溶出率(82.4%)和总去除率(61.4%),高于新鲜和部分稳定渗滤液回灌部分稳定垃圾填埋层;而部分稳定渗滤液回灌部分稳定垃圾填埋层的氮总去除率(58.0%)和渗滤液氮净去除率(32.2%)又高于新鲜渗滤液回灌同样的部分稳定垃圾填埋层(氮总去除率38.2%和渗滤液氮净去除率21.3%).造成这些差异的主要原因是垃圾的生物可降解性,以及填埋层内氮负荷与通风供给的硝化可利用分子氧的比例不同.     

拟除虫菊酯农药残留检测技术研究进展

对近几年应用于拟除虫菊酯农药残留检测的气相色谱法、液相色谱法、毛细管电泳、薄层色谱、超临界流体色谱和光谱技术等实验室检测技术．免疫分析法及活体生物测定法等现场快速检测技术的国内外研究进展进行了综述,并对其发展趋势进行了展望．     

氯乙烯在地下水和土壤中的厌氧脱氯还原降解

主要介绍了通过原位生物修复技术还原脱氯降解氯乙烯的污染。通过注射井向氯乙烯污染区域注射有机物基质作为电子供体,再加入通过富集培养的强化微生物,通过微生物的作用对污染物降解,从而达到对污染地区修复的目的。并列举了一个实例说明此修复技术目前的研究进展水平。     

荧光原位杂交法检测反应器中聚磷菌实验条件优化及应用

文章简要介绍了荧光原位杂交（FISH）技术的基本原理和操作步骤。通过正交试验筛检荧光原位杂交（FISH）技术在检测反应器中聚磷菌时的最佳及适合的实验条件。结果显示,样品预处理较优的条件为：样品在固定前应先经过1×PBS清洗两次,37℃热固定3h,乙醇脱水3min;FISH技术检测反应器中聚磷菌的最佳实验条件为：杂交温度46℃,杂交时间2h,清洗缓冲液中NaCl浓度70 mmol/L。FISH技术检测反应器样品中聚磷菌与传统检测方法相比具有快捷、简便、淮确的优点,在研究环境微生物方面有较好的应用前景。