Prenatal diagnosis of mosaicism 46, XX/46, XX, −21, +t(21q21q)

Mosaicism for a structural chromosome abnormality in amniotic cell cultures indicative of true fetal mosaicism is a rare event. In addition to the laboratory findings the clinical interpretation for counselling in such cases is based on observation of the same abnormality in liveborns as well as previous experience with prenatal diagnosis of the same or similar abnormalities. We report here the prenatal diagnos is of 46,XX/46,XX,−21,+t(21q21q) which was confirmed in fetal skin cell and amnion cell cultures.     

Novel mutations in the human CYP21 gene

The great majority of genetic defects underlying steroid 21-hydroxylase deficiency appear to result from intergenic recombinations between the homologous CYP21 and CYP21P genes. For a minority, novel sporadic point mutations have been detected. De novo mutations in CYP21 have also been reported, but only a few studies have systematically screened their occurrence. We here describe a population-based patient sample in order to estimate the rate of single-family (i.e. sporadic) and de novo germline mutations in the human CYP21 locus. Among 76 Finnish families were observed three single-family mutations and two de novo mutations in CYP21. The rates obtained, ∼5% and ∼2% for novel and de novo mutations, respectively, indicate that they are not rare and that their occurrence should not be ignored in genetic diagnostics of this disorder. Copyright © 2001 John Wiley & Sons, Ltd.     

全氟辛烷磺酸对蚯蚓体内4种酶活性的影响

采用人工土壤法,研究了不同暴露浓度的全氟辛烷磺酸(PFOS)对赤子爱胜蚓(Eisenia fetida)体内过氧化氢酶(CAT)、超氧化物歧化酶(SOD)及谷胱甘肽过氧化物酶(GSH-PX)活性及蚯蚓细胞色素P450(CYP450)含量的影响。研究结果表明,各指标敏感性总体为CYP450>CAT>GSH-PX>SOD。人工土壤试验中PFOS诱导CYP450含量增加,同时又抑制CAT活性。试验第4天时,50mg/kg处理组CAT活性是对照组的2.83倍,SOD活性达到190.769 U/mg,是对照组的2.19倍;12.5 mg/kg处理组GSH-PX活性最高,CYP450含量是对照组的3.85倍。PFOS暴露浓度与蚯蚓CAT、SOD和CYP450活性存在剂量-效应关系,在PFOS环境污染诊断时,可将第4天时的CAT、GSH-PX活性和CYP450含量作为生物标志物。为赤子爱胜蚓体内抗氧化酶和CYP450作为PFOS污染的早期诊断和生态风险监测生物标志物的可行性提供科学依据。     

污水处理厂削减耐药菌与抗性基因的研究进展

长期滥用抗生素导致细菌耐药性增强,并使抗性广泛传播.污水处理厂既是耐药菌(antibiotic resistance bacteria,ARB)与抗性基因(antibiotic resistance gene,ARG)的储存库,排放的污水与污泥是向自然环境中传播抗性的重要污染源,也是削减ARB和ARG及控制抗性传播的重要环节.本文总结了天然水体中的耐药菌和抗性基因污染现状,分析了近年来耐药菌与抗性基因在污水/污泥处理过程中的转归与去除方面的研究进展,同时对将来的重点研究方向提出展望,以期为今后耐药菌和抗性基因的污染控制提供参考.     

壬基酚对斑马鱼精巢组织及性激素合成酶基因表达的影响

壬基酚（NP）是广泛存在于水体中的环境内分泌干扰物,会影响鱼类的生殖和发育.为了解NP影响鱼类精巢发育的分子机制,将成年雄性斑马鱼（Danio rerio）暴露于不同浓度（0、125、250、500μg·L-1）NP下21d,用常规组织学方法研究试验鱼精巢组织结构的变化,并用荧光定量PCR（QRT-PCR）方法检测试验...     

3种典型消毒副产物对细菌抗生素抗性的影响

本文研究了消毒副产物对细菌抗生素抗性的作用.分别选取三卤甲烷类(THMs)、卤乙酸类(HAAs)以及醛类消毒副产物中典型物质一氯二溴甲烷(CDBM)、碘乙酸(IAA)和水合三氯乙醛(CH),研究了细菌经消毒副产物染毒之后,对多种抗生素的抗性变化情况.结果发现,3种消毒副产物均可以诱导野生型铜绿假单胞菌提高对5种受试抗生素的抗性,提高作用IAACHCDBM.IAA对多重抗性也具有一定的提高作用.野生型大肠杆菌的抗生素抗性同样能够被DBPs诱导提高,说明DBPs对抗性的影响具有普遍性.其作用机制可能是DBPs通过氧化胁迫机制诱导细菌发生突变,进而提高细菌抗生素抗性.本研究表明饮用水系统中部分细菌抗生素抗性的获得可能与消毒副产物有关;除毒理学风险外,消毒副产物的流行病学风险同样不容忽视.     

A simple,rapid, and highly informative PCR-based procedure for prenatal diagnosis and carrier screening of phenylketonuria

The polymorphic information content (PIC) and the degree of heterozygosity of several polymorphic systems within the phenylalanine hydroxylase (PAH) gene were determined in 85 European Caucasian and 19 Chinese phenylketonuria (PKU) kindreds. The first system examined, a short tandem repeat (STR), had a PIC of 80 and 73 per cent in these Caucasian and Chinese samples, respectively. The degree of heterozygosity actually observed for this system was 81 and 64 per cent in the Caucasian and Chinese PKU families, respectively. Through the addition of a second polymorphism based on a variable number of tandem repeats (VNTR), the PIC was increased to 90 per cent in Caucasians, but only to 75 per cent in Chinese. The degree of heterozygosity observed for this combination was 94 per cent in European PKU families and 67 per cent in Chinese PKU families. The further addition of an Xmnl RFLP increased both the PIC and the level of heterozygosity in Caucasians to 95 per cent, but did not change either of these measures in Chinese. The combined use of these three polymorphisms significantly increases the informativity of prenatal diagnostic and carrier screening procedures in both Caucasian and Chinese PKU kindreds. Furthermore, since each of these polymorphisms can be studied by PCR-based methods, these new tests can be performed more quickly and easily than previous Southern-based procedures.     

Trace contamination with dioxin-like chemicals: evaluation of bioassay-based TEQ determination for hazard assessment and regulatory responses

Many recent dioxin contamination events have been traced back to poisoned animal feed or feed ingredients. Therefore, enforcement authorities placed limits on the levels of dioxins in food and feed or implemented strict monitoring and control programs. The levels in force are generally expressed as TEQ values, which inherently accepts the underlying hypothesis that the effects of dioxin-like chemicals are additive. TEQ determination involves either chemo-analysis, with high-resolution gas chromatography in combination with high-resolution mass spectroscopy, or bio-analysis. Bio-analytical methods, more particularly the reporter gene expression method CALUX, are advantageous due to their high throughput rate and low cost. Moreover, the CALUX methodology detects the overall dioxin-like toxicity, rather than the limited number of compounds investigated by chemo-analysis. Bioanalytical methods such as CALUX also differ from chemo-analysis in that the contribution of antagonistic as well as synergistic effects, which violate the additivity principle, can be detected. The application of bio-analytical methods can facilitate a broader assessment of public health risks by intensifying the current monitoring programs in terms of both sample numbers and types. Bio-analysis provides information on the total dioxin-like activity of the samples under study (hazard assessment); however, chemo-analysis is still needed to identify the predominant contaminants (congener identification) for risk management.     

膜法技术在印染废水深度处理中的应用和研究

采用超滤-纳滤、超滤-反渗透2种膜集成工艺对印染废水二级生物法的处理出水进行深度处理,比较2种不同材料和结构的超滤膜预处理的效果,并研究了纳滤和反渗透对出水水质的影响.研究结果表明,作为纳滤和反渗透预处理的有效手段,超滤能有效去除部分COD.PES超滤膜综合性能较PVC超滤膜好;在深度脱盐方面,与反渗透膜相比纳滤膜在较...     

A chromosome 21-specific cosmid cocktail for the detection of chromosome 21 aberrations in interphase nuclei

Fluorescent in situ hybridization (FISH) with a 21q11-specific probe (CB21c1) consisting of three non-overlapping cosmids has been applied to interphase amniocytes of pregnancies at increased risk for fetal aneuploidy (N = 78) and to interphase lymphocytes, cultured and uncultured, of patients referred for Down syndrome (N = 19 and 28, respectively). In the uncultured amniocytes, six chromosome aberrations were detected: three cases of trisomy 21, a triploidy, a de novo 46,XX,t(21q21q), and a mosaic 46,XY/47,XY,+dic(21)(q11)/48,XY,+dic(21)(q11), +del(21)(q11). In 15 cultured and 20 uncultured blood samples, FISH correctly diagnosed trisomy 21 (full or mosaic) at the interphase level, which was confirmed in all cases by subsequent karyotyping. Because of specific and strong signals in interphase nuclei, CB21c1 appears to be a useful tool for the rapid detection of chromosome 21 abnormalities.     

反硝化细菌、硝酸钙和锆改性沸石联用对底泥中氮磷迁移转化的影响及硝态氮释放风险评估

本文考察了基于反硝化细菌、硝酸钙和锆改性沸石的组合技术（CN+DB+ZZ）对底泥中氮磷迁移转化的影响,并探讨了该技术的硝态氮释放风险.结果发现,单一的硝酸钙处理（CN）虽然可以有效地抑制底泥中磷的释放,但是会造成上覆水体的氨氮和硝态氮污染.硝酸钙和反硝化细菌联合处理（CN+DB）尽管可以有效地抑制底泥中磷的释放,并降低上覆水体的硝态氮二次污染风险,可是却无法有效地控制底泥中氨氮的释放.硝酸钙和锆改性沸石联合处理（CN+ZZ）虽然可以有效地抑制底泥中磷和氨氮向上覆水体的释放,但却会造成上覆水体硝态氮的二次污染.CN+DB+ZZ组合处理技术不仅可以有效地控制底泥中磷的释放,而且可有效降低底泥中氨氮的释放速率,并且与CN和CN+ZZ技术相比还可降低上覆水的硝态氮二次污染风险.CN+DB+ZZ组合技术对底泥中磷与铁同步释放的抑制、对底泥中氧化还原敏感态磷的削减、以及对底泥吸附磷酸盐和氨氮能力的增强,对于其控制底泥中磷和氨氮的释放是至关重要的.以上结果说明,CN+DB+ZZ组合技术是一种非常有希望的用于控制水体底泥中磷和氨氮释放的方法.     

一种面向中小企业的LCA软件开发思想及开发实践

针对目前LCA应用仅局限于研究机构和大型企业,而中小企业环境压力更大的现状,提出了一种将LCA理论应用于中小企业的新方法,模板化LCA(TDLCA),给出了其定义,讨论了模板化LCA实施的理论基础,模板建立的方式,并在此基础上开发了面向中小企业的产品生命周期评价软件SME-LCA。SME-LCA在保证评价结果准确性的前提下,软件操作难度大大降低,节省了评价时间,提高了LCA的执行效率。TDLCA结合了LCA研究人员和中小企业的产品开发人员两方面的优势,是将LCA理论应用于中小企业的有效方法。     

北京及周边6个城市大气PM2.5中左旋葡聚糖及其异构体的时空分布特征

采集北京及周边6个城市春、夏、秋、冬这4个季节大气PM_2.5样品,用离子色谱法测定其中的左旋葡聚糖（LG）、甘露聚糖（MN）和半乳聚糖（GT）,对比这3种脱水聚糖与PM_2.5及有机碳（OC）的浓度水平和时空分布特征,应用SPSS 24.0软件分析了数据间的显著性差异.结果表明,6个城市PM_2.5、OC和LG浓度水平的季节分布规律高度相似,呈现冬季 > 春季 > 秋季 > 夏季,4个季节3种脱水聚糖的浓度水平有显著性差异.从空间角度分析3种脱水聚糖浓度水平,北京与天津、保定、石家庄无显著性差异,但北京与济南、郑州有显著性差异.根据6个城市的LG/MN和LG/（MN+GT）等浓度水平的比较,初步判断该区域PM_2.5中的生物质燃烧源主要来源于农作物秸秆和硬木.春季的PM_2.5污染过程中,北京、天津、石家庄和济南的左旋葡聚糖在PM_2.5中的含量变化基本保持稳定,显示该污染过程受生物质燃烧排放的影响较弱.     

两种典型PPCPs在潜流人工湿地中的季节性去除效果及降解产物

药物及个人护理品(PPCPs)在地表水中的污染问题已引起了广泛关注,人工湿地(constructed wetlands,CWs)在PPCPs去除中具有突出优势,然而关于不同类型PPCPs 在CWs 去除中的相互作用研究得还较少.本研究选取两种常用且相对分子质量接近的典型PPCPs——广谱抗菌剂三氯生(TCS)和非甾体抗...     

3-PBA降解菌BA3的降解特性及基因工程菌构建

从石油污染土壤中分离到1株能以3-苯氧基苯甲酸(3-PBA)为唯一碳源生长的细菌,命名为BA3.根据其生理生化特征和16S rDNA序列相似性分析,将该菌鉴定为鞘脂菌属(Sphingobium sp.).该菌株在60 h内对100 mg·L-1的3-苯氧基苯甲酸的降解率达到99%.降解3-苯氧基苯甲酸的最适温度为30℃...     

纳米零价铁颗粒去除As(III)和As(V)的动力学过程及性能研究

本研究系统分析了不同初始砷浓度和不同nZVI投加量等条件下,nZVI去除As（III）和As（V）的动力学过程和除砷性能.结果表明,nZVI可快速有效地去除As（III）和As（V）,除砷过程均符合准二级动力学模型,且As（III）的去除速率明显快于As（V）.在砷浓度为5 mg·L^-1时,As（III）去除速率常数达最大值0.30 g·mg^-1·min^-1,为As（V）去除速率（0.034 g·mg^-1·min^-1）的8.8倍.Weber-Morris粒子内扩散模型拟合结果表明,nZVI除砷速率是由外扩散和颗粒内扩散共同控制的.分析反应平衡时砷浓度测定结果,发现不同砷浓度条件下nZVI对As（III）的去除量为As（V）的1.5~2.6倍,nZVI对砷的去除量随初始砷浓度增加而降低,随nZVI投加量增加而增加.砷浓度为50.0 mg·L^-1时,As（III）和As（V）去除量达到最高,分别为152.14 mg·g^-1和62.02 mg·g^-1,均高于传统（羟基）氧化铁对As（III）和As（V）的去除量.因此,nZVI可高效去除水中As（III）和As（V）,且用于修复以As（III）污染为主的地下水更具有优势.