Antenatal gene tests in low-risk pregnancies: molecular screening for aspartylglucosaminuria (AGU) and infantile neuronal ceroid lipofuscinosis (INCL) in Finland

Approximately one in five subjects in Finland carries some gene defect associated with 30 diseases belonging to the Finnish disease heritage, and about one in 500 children born is affected. Almost all carriers, women and men, are unaware of their condition. Recent advances in molecular medicine have offered the possibility of population-based carrier screening for recessive disorders. We studied acceptance and attitudes to antenatal screening for aspartylglucosaminuria (AGU) and infantile neuronal ceroid lipofuscinosis (INCL). From January 1995 until December 1996 carrier tests were offered at Kuopio City Health Center, free of charge to all pregnant women attending maternity care units. Women found to be carriers of AGU (n=47) or INCL (n=14) underwent detailed genetic counseling, and their male partners were also offered the test. If both partners appeared to be carriers we offered prenatal testing (n=1). No affected fetuses were detected. Attitudes towards the gene test were elicited by means of a questionnaire. Altogether 87% of pregnant women elected to undertake the gene tests. Antenatal screening for gene defects was feasible and well accepted, and it provided an effective way to find carriers of genetic diseases and to incorporate prenatal testing into this process. Copyright © 2001 John Wiley & Sons, Ltd.     

First trimester serum screening for down's syndrome

Screening for Down's Syndrome has been shown to be effective at 10 weeks of pregnancy. A multicentre study (the First trimester serum screening study) has shown that there are two biochemical markers of choice at this time in pregnancy, namely pregnancy associated placental protein A (PAPP-A) and the free β-sub-unit of human chorionic gonadotrophin (free β-hCG). When used together with maternal age these two biochemical markers have an estimated detection rate of 62% and a 5% false-positive rate. The results are consistent with those obtained from a systematic review of the world literature. Other markers are less predictive of Down's syndrome though there is still some uncertainty over the value of dimeric inhibin-A at 10 weeks of pregnancy. Nuchal translucency measurement, from an ultrasound examination performed at about 10 weeks of pregnancy, is associated with Down's syndrome and is emerging as an important potential screening marker. At present there is uncertainty over its quantitative performance and performance when combined with biochemical markers. The resolution of these issues is currently the subject of active research. Ten week screening for Down's syndrome is an advance that is now technically possible though there is still insufficient information to justify its use in routine screening practice.     

一株耐盐废水降解菌株的分离与特性

从皂素废水生化处理系统中活性污泥中分离筛选出1株耐高氯离子(CaCl)2的皂素废水降解菌S616,并对其进行菌种鉴定和降解性能研究。综合16SrDNA测序结果和菌株的生理生化实验结果确定细菌S616为坚强芽孢杆菌;以皂素废水(COD6230mg/L,[Cl-]=20000～30000mg/L)为例,研究其降解能力:发现该菌株能有效去除皂素废水中COD的能力,能在3d之内去除废水中的COD为70%以上(实验条件:恒温35℃,140r/min振荡,pH=7.5～8.0)。     

水电梯级开发对乌江流域浮游植物分布的影响

调查研究了乌江流域贵州段5个水库上游来水、库区、坝下浮游植物的种类、密度和生物量,结果显示,库区较电站上游来水浮游植物种类增加,其中绿藻门、蓝藻门种类增加较多,硅藻门种类仍然是水库库区的主要种类,库区浮游植物密度和生物量分别为上游来水的2.06倍和1.77倍。库区浮游植物数量的增加幅度与水库调节能力、水体营养负荷及库区周边环境等因素有关。索风营水库为日调节型水库,水文情势较原河流变化较小,库区浮游植物增加幅度较小,而洪家渡水库为多年调节水库,水文情势的变化差异很大,库区浮游植物密度和生物量较上游来水显著增加。     

曝气生物滤池处理生物质废水及降解菌分析

生物质污水含有大量的纤维素、半纤维素、淀粉、糖类、有机酸、蛋白质,COD值很高,严重污染环境,并造成生物质资源浪费.采用曝气生物滤池(BAF) 处理生物质污水,通过分析污水化学需氧量(COD),总氮(TN)的去除率表征该系统对高COD生物质污水的处理效果.结果表明,水力停留时间(HRT)为10 h,进水运行10 h后,出水平均COD为74.90 mg/Ｌ,总氮(TN)为1.21 mg/Ｌ,去除率分别达到95.7%与94.5%,均达到国家污水综合排放标准(GB 8978-1996)第二类污染物最高允许排放浓度的一级标准.系统运行稳定后,利用扫描电镜(SEM)观察载体的表面微生物的挂膜情况,并结合微生物分离、单菌处理效果评价、16S rDNA鉴定技术对系统内去除COD的优势菌群进行了分析,优势菌群为假单孢菌属、不动杆菌属、寡养单胞菌属、红球菌属、微杆菌属.     

水环境中雌激素的酶联免疫快速生物筛选技术研究

采用酶联免疫(ELISA)检测技术,对来自长江口及污水处理厂的水样分析典型雌激素雌二醇(E2)的浓度,将检测结果与化学方法检测数据进行比较验证,以阐明ELISA应用于水环境雌激素快速筛选的可行性。结果表明:ELISA的检测限可低至0.5 ng/L,试验的变异系数<30%,具有较高的灵敏性和良好的重复性;ELISA检测长江口水样中E2浓度范围≤0.7 ng/L,污水处理厂水样为2.5～11.5 ng/L,与液相色谱串联质谱(LC-MS/MS)的检测数据进行比较分析,其相关系数R~2为0.9147,表明2种方法具有良好的相关性;ELISA检测所需的水样量比LC-MS/MS更少,使用96微孔板可同时对43个样品进行检测,缩短了多个样品的分析时间,具有快速简便、经济适用的特点。因此,ELISA作为1种快速、简便、灵敏的雌激素高通量筛选技术,可为环境保护部门开展水环境雌激素物质调查和水体雌激素快速诊断等工作提供技术支持。     

电站运营对北溪下游水质影响探讨及改进建议

通过对利水电站坝上、坝下布设监测断面,进行为期近一个月的枯水期水质监测,分析上下游水质的变化以期对梯级电站的建设与运营对北溪下游水质的影响进行研究,认为梯级电站的建设运行,形成梯级水库,流速变缓,大气覆氧能力降低,水中溶解氧下降,导致水体自净能力减弱,使水环境容量降低,对污染物的稀释、混合和降解能力减弱,湖库富营养化是水库的主要生态环境问题。为此,提出污染防治对策,并提出当上游污染水团下泄时,作为补救和改善水质时电站应采取的运行方式,为今后河流的突发污染防治、水质保护与改善提供经验借鉴。     

一株高浸磷嗜酸氧化硫硫杆菌的分离与鉴定

从矿山土样中分离到一株嗜酸的浸磷矿细菌HY-01,观察其形态并研究其培养特征.结果显示,该菌株为革兰氏阴性、短杆状运动细菌,菌体长1～2μm,宽0.5～0.7 μm,能在pH 1.5～8.0的范围内生长,最适生长温度为37℃,最适pH为1.5～3.0.该菌株可以KNO3、NH4NO3、(NH4)2CO3、NH4H2PO...     

网络化关键基础设施依存关系建模与仿真方法研究

针对关键基础设施(CI)依存关系导致的系统级联效应这一问题,在系统化分析网络化CI依存关系建模与仿真的各种方法之上,通过比较各种研究方法的优缺点、适用范围、存在问题,提出采用系统动力学和Multi-Agents混合建模方法,来模拟系统之间的动态关联关系的变化。最后,以一个水资源系统的突发安全事件为例,利用Any-Logic软件对事故所涉及影响到事故系统间的参数进行优化与数值模拟。结果表明:通过该方法优化试验确定事故水系统对其他关联系统的最优供给量,优化该地区的基础设施网络运作能力,同时有效防御系统的级联损失。     

工业场地再利用适宜性评价研究

土地是生态环境的重要组成部分,也是人类赖以生存的主要资源之一。随着城市规模的不断扩大,越来越多的工业企业搬离老城区,如何实现工业搬迁场地的安全再利用已成为制约土地资源再利用的关键因素。以泰安市某个工业搬迁场地为例,以北京市《场地环境评价导则》(DB 11/T 656-2009)中通用土壤筛选值为评价标准,通过对场地土壤环境质量进行调查与监测,对该场地能否再利用进行适宜性评价,以保证土地资源的安全再利用,为土地资源管理提供合理依据。