First-trimester prenatal diagnosis of cystic fibrosis using the polymerase chain reaction: Report of eight cases

Eight pregnancies at risk for cystic fibrosis have been monitored by first-trimester prenatal diagnosis with DNA amplification analysis. The polymerase chain reaction (PCR) was used in all cases to amplify the region detected by KM 19. In two cases, the region detected by CS·7, another DNA probe tightly linked to the CF locus, was also examined. The results of the PCR determinations were confirmed using the Southern blotting procedure, by segregation analysis of restriction fragment length polymorphisms (RFLPs) relative to XV-2c, J3·11, metH, metD, and KM19 probes.     

骆马湖表层沉积物中PPCPs的赋存特征及生态风险评估

为了解骆马湖湖区表层沉积物中药品及个人护理品(PPCPs)的污染特征,分析其污染来源并进行生态风险评估,利用高效液相色谱串联质谱法进行检测.结果表明:①14个表层沉积物样品中共检出14种PPCPs,总含量范围为0.02~330.02 ng/g,检出率范围为7.14%~100.00%.其中主要污染种类为避蚊胺(DEET)、酮基布洛芬(KP)及咖啡因(CF),分别占总含量的41.96%、16.85%、15.65%.②DEET的高含量和普遍检出可能是农药、护理品及人类活动多重作用的结果,CF检出含量偏高则与相关饮品及药品的随意丢弃有关.③根据聚类分析结果,1号、2号、9号、10号采样点位于湖湾区,污染情况更为严重.④采用风险商进行生态风险评估,结果表明骆马湖表层沉积物中CF、氧氟沙星(OFL)、磺胺甲恶唑(SMX)的生态风险较高,不容忽视.研究显示,与其他湖泊表层沉积物中赋存含量相比,骆马湖属中等偏低水平,但是骆马湖的DEET含量偏高,CF存在一定生态风险,这需要引起相关管理部门的关注.      

Amniotic fluid disaccharidases in the prenatal detection of cystic fibrosis

Intestinal disaccharidases in amniotic fluid were studied in 41 pregnancies with a recurrence risk for cystic fibrosis (CF). In 11 out of 13 pregnancies with CF fetuses the maltase and sucrase activities were either below the control range (8 cases) or below the 10th percentile of control values (3 cases). Trehalase and lactase were slightly less informative indicators of CF. Of the other 28 pregnancies 3 had low amniotic fluid activities of several intestinal enzymes and were terminated, 12 resulted in the birth of a healthy child and 13 are continuing. The findings in fetal CF suggest an impairment of the defaecation of intestinal contents into the amniotic fluid. Reduced or low amniotic fluid disaccharidase activities were also found in other fetal disorders with demonstrated or presumed intestinal anomalies: e.g. anal atresia (2 cases), anencephaly (3 our of the 7 cases), trisomy 13 (5 cases), trisomy 18 (3 of the 5 cases) and trisomy 21 (19 of the 22 cases). Reduced amniotic fluid disaccharidase activities, although not specific for CF, are highly informative in pregnancies at high risk for CF. Using the 10th percentile of the normal range for amniotic fluid disaccharidase activities as an action line, the sensitivity of CF detection is estimated at 80 to 90 per cent, which could in high risk pregnancies reduce the risk of having another affected child from 1 in 4 to 1 in 20.     

聚苯胺/蒽醌修饰碳毡作为阴极在电芬顿中的应用

通过电化学的方法制备了经2-蒽醌磺酸钠(AQS)和聚苯胺(PANI)修饰的碳毡(CF)电极,探究其作为阴极应用于电芬顿系统中降解有机污染物的特征和影响因素及电化学稳定性.实验结果表明:经AQS/PANI修饰后碳毡阴极的电子转移内阻显著降低,仅为未修饰碳毡电极的0.21%,电化学活性显著提高.相同实验条件下修饰后的电极产过氧化氢的量约是未修饰电极的10倍.在阴极电位为-0.5 V,pH值为2以及Fe²⁺浓度为0.1 mmol·L^-1的条件下,60 min内罗丹明B的降解率可达96.46%.而在同样的实验条件下,CF、AQS/CF和PANI/CF分别作为阴极时,电芬顿体系对于罗丹明B的降解率分别为24.57%、64.29%和72.97%,均低于AQS/PANI/CF阴极.在此基础上,进一步开展自由基的淬灭实验和EPR实验,结果表明经AQS/PANI修饰后的碳毡阴极可有效催化还原分子氧产生超氧自由基,超氧自由基进一步转化为芬顿反应过程中所需的过氧化氢.     

Prenatal detection of cystic fibrosis; comparative study of maltase and alkaline phosphatase activities in amniotic fluid

The potential value of microvillar enzymes in the prenatal diagnosis of cystic fibrosis (CF) has previously been demonstrated and is corroborated in the present comparative study. Maltase and alkaline phosphatase (ALP) activities were studied in the amniotic fluids of 57 pregnancies with a 1 in 4 risk for CF or with a known CF outcome and in 489 controls. A simple assay for maltase activity (MU-maltase) with the fluorogenic substate 4-methylumbelliferyl α-glucoside, offers great technical advantages and an at least equal detection rate of CF, when compared to the previously used test with maltose as substrate. Intestinal ALP was estimated either as phenylalanine inhibitable activity (PI-ALP) or as the proportions of residual activity in the presence of the inhibitors phenylalanine or homoarginine. MU-maltase and PI-ALP appeared the most successful methods: both tests were able to detect 14 of the 16 (88 per cent) pregnancies with fetal CF. Each of the two tests alone also allowed a correct prediction in 24 of the 25 pregnancies at risk but with normal outcome; however all 25 cases could be correctly predicted by a combined evaluation. It is suggested that more than one intestinal enzyme activity should be evaluated to allow optimal results in the prenatal monitoring of pregnancies at high risk for CF.     

Effect of introducing prenatal diagnosis on the reproductive behaviour of families at risk for cystic fibrosis. A Cohort study

We studied 101 couples to determine how far their reproductive behaviour was affected by the diagnosis of cystic fibrosis (CF) on its first occurrence in the couple's progeny and by the availability of prenatal diagnosis (PD). The couples were all resident in the Veneto and Trentino regions and attending the Verona CF Centre. CF had been diagnosed in the first affected child, during the period 1 January 1980-1 July 1990, before the age of 1 year. Couples received a questionnaire regarding socio-demographic status, reproduction data, and awareness of PD. Reproductive history was divided into three phases: prior to diagnosis of CF in the first affected child; from this time until PD was made available; and after the couples had learned of PD. In phase 2 (awareness of the genetic risk but not of PD), 54 couples showed a marked decrease in reproduction, none of the few pregnancies that occurred being taken to term. When couples became aware of PD, some resumption of reproductive activity occurred and 11 per cent of the 101 couples had another child; PD was used in 65 per cent of pregnancies and the abortion rate decreased to 35 per cent. All couples who opted for PD had no children without CF.     

Ag/Fe催化还原体系处理水体中氯代烃的研究

研究了水体中的三氯甲烷(CF)、四氯化碳(CT)、1,1,1-三氯乙烷(1,1,1-TCA)、1,1,2,2-四氯乙烷(1,1,2,2-TeCA)、六氯乙烷(HCA)、三氯乙烯(TCE)、四氯乙烯(PCE)在Ag/Fe以及Fe⁰还原体系中的还原脱氯反应.结果表明,Ag的加入会明显提高氯代烃的还原脱氯速率,铁表面积浓度为150 m²·L^-1时,如果单独使用Fe⁰,CF、CT、1,1,1-TCA、1,1,2,2-TeCA、     

铜对蚯蚓转化牛粪过程抗生素抗性基因的影响

以赤子爱胜蚓（Eisenia fetida）为试验蚓种,设定不同Cu浓度梯度,研究蚯蚓转化牛粪过程中Cu对ARGs消长的影响.结果表明,不同Cu浓度处理下,ARGs累积总丰度呈现出CF （未添加Cu）-1降低至4.33×10^-1copies/16S copies.低、中浓度Cu的添加显著提高了样品中ARGs的总丰度水平（P<0.05）.通过研究不同类型ARGs在不同时间阶段的变化,发现低、高浓度Cu处理组（T1、T3）在蚯蚓转化过程中提高了tet-ARGs、erm-ARGs和str-ARGs的丰度,而中浓度Cu处理组（T2）中tet-ARGs和str-ARGs丰度降低.冗余分析（RDA）得出pH值显著影响蚯蚓转化过程中ARGs相对丰度的变化（P<0.05）,且TOC、TN和Cu对ARGs的消长也发挥着重要作用.蚯蚓转化可加速牛粪中ARGs丰度的削减,一定程度上能够减少其环境风险,但牛粪中Cu的残留可导致蚯蚓转化过程中部分ARGs的富集,因此亟需进一步优化蚯蚓转化处理工艺.     

2008~2017年中国地级市化肥施用碳足迹的时空演变格局

本研究收集整理近10年来我国地市年鉴化肥施用数据,基于生命周期分析思想定量研究我国2008~2017年地市尺度的化肥施用碳足迹时空演变特征.结果表明：2008~2017年,我国化肥施用碳足迹以2013年为节点呈现"先增大后减少"的单峰变化,2015年我国氮、磷和钾肥施用总碳足迹负荷为1.97t CO₂eq/hm²,较发达国家平均水平高出50%以上;在化肥生产和施用的全生命周期阶段,生产和运输过程的温室气体排放占比较高（60%以上）;氮肥的施用贡献了约91%的总化肥施用碳足迹;超过3/4的地市化肥施用碳足迹负荷过高,主要位于我国三大粮食主产区（华北平原,东北平原和长江中下游平原）;2013年以后仍有33个地市的化肥施用碳足迹依然保持增长,这些地区主要位于新疆,云南和黑龙江等地.本研究揭示了近10年我国化肥施用碳足迹的变化过程,可为我国绿色农业发展和温室气体相关政策制定提供一定参考依据.     

g-C3N4/Cu2O/CF电极制备及在微生物燃料电池中的应用

为了提高微生物燃料电池的产电性能,采用电沉积法将石墨态氮化碳(g-C_3N_4)与氧化亚铜(Cu_2O)负载到碳毡(Carbon felt,CF)表面,制得g-C_3N_4/Cu_2O/CF光电极用于构建微生物燃料电池.通过场发射扫描电子显微镜(SEM)、透射电子显微镜(TEM)、X射线光电子能谱(XPS)、傅里叶变换红外光谱(FT-IR)、光生电流曲线(I-T)、线性扫描伏安曲线(LSV)对光电阴极进行光电性能测试,并在白光发光二极管(LED)辐照下研究了以Cu_2O/CF、g-C_3N_4/Cu_2O/CF为阴极光催化微生物燃料电池的产电性能.结果表明,g-C_3N_4/Cu_2O/CF电极中g-C_3N_4分布在Cu_2O之间;g-C_3N_4/Cu_2O/CF光电极能提高光利用率,与Cu_2O/CF光电极相比,光电流密度达到2700 mA·m~(-2),增长幅度达到125%;与Cu_2O/CF阴极微生物燃料电池相比,g-C_3N_4/Cu_2O/CF阴极微生物燃料电池具有更优的产电能力,在白光LED辐照下最大功率密度和光电流密度达到110.7 mW·m~(-2)和1102 mA·m~(-2),增长幅度达到16%和27%.     

Co-amplification of the cystic fibrosis ΔF508 mutation with the HLA DQA1 sequence in single cell PCR: Implications for improved assessment of polar bodies and blastomeres in preimplantation diagnosis

We have developed a heminested PCR (polymerase chain reaction) method, performed on single cells, for the analysis of the most common cystic fibrosis (CF) mutation (AF508). As a quality control, the polymorphic exon 2 of the HLA DQA1 locus was co-amplified from the same cell. With a non-radioactive reverse dot-blot assay, the genotype of these two loci could be determined. Experiments on 98 single fibroblasts, heterozygous for the CFTR and the DQA1 locus, showed that amplification of either locus could be obtained in 97 per cent of the cases, but only 90 per cent showed heterozygosity for CF, 75 per cent showed heterozygosity for DQA1, and 74 per cent showed heterozygosity for both CF and DQA1. Contaminations detected only after DQA1 typing occurred in 3 per cent of our samples. Error rate calculations based on our experimental PCR data indicate that single blastomere diagnosis would lead to unacceptable errors, i.e., an affected fetus, in less than 1 per cent of the cases. The risk of undetected crossing-over or the dubious results that crossing-over could generate, would make isolated polar body diagnosis at the present time very difficult. The combined approach of PCR on polar bodies followed by confirmation of the diagnosis on blastomeres, however, should give a solid base for preimplantation diagnosis of monogenic disorders.     

室内多环芳烃污染源的化学组成特征研究

运用环境舱模拟源排放的方法采集了烹调油烟与环境烟草烟雾的样本,对18种PAHs进行了定量分析.比较了不同食用油与不同品牌香烟产生PAHs组成特征的差异,初步建立了2类室内PAHs来源的化学成分谱.结果表明:烹调油烟中3环以下的PAHs为主体,Fluo,Pyr和Flu相对含量较为稳定;香烟烟雾以3～4环组分为主体,Flu,Phe,InP和BaA较为稳定,Cor含量较烹调油烟而言显著增加.2类源的ρ(BaA)/ρ(Chy),ρ(BeP)/ρ(BaP)与ρ(InP)/ρ(BghiP)稳定且存在显著差异,可以用来解析室内PAHs以及PAHs暴露的来源.运用等效毒理学因子估算了其危害程度,结果表明:每100 g食用油在烹调过程(60 min)中释放产生PAHs的毒理学效应仅为吸烟过程中每g烟草所产生PAHs毒理效应的一半.      

骆马湖水体中药品及个人护理品的污染特征及风险评估

为评价骆马湖湖区药品及个人护理品(PPCPs)的污染状况和生态风险,利用高效液相色谱串联质谱(HPLC-MS/MS)分析骆马湖表层水体中61种PPCPs的赋存浓度、空间分布特征,并根据风险熵方法进行生态风险评估.结果表明:①骆马湖表层水体中共检出15种PPCPs,其中人用7种,人、兽共用4种,兽用4种,其质量浓度范围为2.67~6 514.91 ng/L.卡马西平(CBZ)、避蚊胺(DEET)、舒比利(SP)、咖啡因(CF)及林可霉素(LCM)检出率均为100%,DEET、甲砜霉素(TAP)及氟苯尼考(FF)的平均值均较高,分别为162.87、61.33和56.72 ng/L.②骆马湖表层水体中PPCPs的空间分布呈北高南低、西高东低的特征.不同类型PPCPs空间分布规律差异明显,人、兽共用PPCPs浓度自北向南逐渐递减,人用PPCPs浓度北部略高于南部,兽用PPCPs浓度在全湖均匀分布.③骆马湖水体中CBZ、CF具有高生态风险,恩诺沙星(ENR)、诺氟沙星(NOR)、磺胺嘧啶(SD)、罗红霉素(RXM)及LCM具有较高生态风险,可见骆马湖生态风险主要来源为人用PPCPs.研究显示,骆马湖表层水体中PPCPs浓度水平中等,但其中DEET污染较重,北部湖区应加强围网、围塘养殖管理.      

典型污染物包覆层中氯仿的沿程生物转化机制

为明晰氯仿（CF）在包覆层中的降解过程,构建了模拟覆盖层系统（SLCS）,并结合高通量测序技术首次系统分析了CF在SLCS中的沿程生物转化机制,结果表明,覆盖层可根据氧气含量分为有氧区（0~20cm）、缺氧区（20~40cm）和无氧区（>40cm）.高通量测序分析表明,有氧区的优势菌为甲烷氧化菌,其中I型菌Methylobacter（甲基杆菌属）及Ⅱ型菌Methylosinus（甲基弯菌属）居多,缺氧区甲烷氧化菌的相对丰度为13%左右,缺氧和无氧区中Anaeromyxobacter（厌氧粘细菌属）成为了优势CF厌氧降解菌.CF在有氧、缺氧和无氧条件下均有效降解.在缺氧和无氧区,CF经厌氧还原脱氯转化为二氯甲烷,部分二氯甲烷在Dehalobacter（脱卤素杆菌属）作用下产生乙酸盐、H₂和CO₂.在有氧区,其余二氯甲烷通过甲烷氧化菌共代谢降解.改变进气口通量发现,SLCS对甲烷的去除率与通量呈负相关关系（R²=0.80）,但甲烷氧化速率与通量呈正相关关系（R²=0.90）.与甲烷类似,SLCS对CF的去除率与进气口通量呈负相关关系（R²=0.86）,但降解速率与进气口通量呈正相关关系（R²=0.89）.此外,进气口通量的增加对CF好氧共代谢降解的促进作用大于厌氧还原脱氯降解.该研究对氯代烃类污染物的降解提供了新的基础,对该类污染物的原位生物修复提供了理论依据.     

Decomposition of CFC and Halon waste gases in normal-pressure plasma reactors

１ＩｎｔｒｏｄｕｃｔｉｏｎＳｉｎｃｅｔｈｅ１９７０ｓ，ｔｈｅＣＦＣｓａｎｄＨａｌｏｎｓｅｍｉｔｅｄｂｙｈｕｍａｎｈａｖｅｂｅｅｎｗｉｄｅｌｙｔｈｏｕｇｈｔａｓｓｕｂｓｔａｎｃｅｓｗｈｉｃｈｍａｙｃａｕｓｅｏｚｏｎｅｄｅｐｌｅｔｉｏｎｉｎｓｔｒａｔｏ...     

Five years' experience of prenatal diagnosis of cystic fibrosis in the former U.S.S.R.

From a total of 490 cystic fibrosis (CF) high-risk families under supervision (mostly Russian Slavs from the European part of the country), DNA data including both direct screening for some CF gene(CFTR)mutations(deIF508, G551D and 1677delTA) and allelic polymorphism studies with tightly CF linked DNA markers were collected from 261 families. All full families (129) and 86 CF families with a deceased index child were found to be either fully (42 per cent) or partially (40 per cent) informative for DNA analysis. Prenatal diagnosis (PD) was carried out in 161 CF families. Microvillar enzyme (MVE) assay was applied to all 140 PD at the second trimester either as a single test (88) or in conjunction with DNA analysis (52). The frequency of false-negative results of the MVE assay was 1.3 percent and that of false-positive results, as judged by the albumin meconium test, was 5.0 per cent. Ambiguous results of MVE analysis were found in 30 cases, 12 of which were verified by DNA analysis. Molecular diagnosis of CF at the first trimester was carried out in 21 cases and four pregnancies were terminated. Altogether, 39 pregnancies with a predicted high risk of CF fetuses were terminated. The low average frequency of delF508 in CF chromosomes of Russian Slavs (50 per cent), its remarkable inter-population variation, and the significant proportion of at-risk families without an affected child determine the necessity of combined molecular and biochemical (MVE assay) approaches for efficient prenatal diagnosis of CF in the former U.S.S.R.     

Impacts of ozone on the biomass and yield of rice in open-top chambers

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秸秆还田对冬小麦-夏玉米农田土壤固碳、氧化亚氮排放和全球增温潜势的影响

旱地农田温室气体净排放(以全球增温潜势表示)主要取决于土壤固碳速率和氧化亚氮(N2O)排放量.基于长期定位施肥试验,综合分析2010～2017年表层(0～20 cm)土壤有机碳含量和2014～2017年N2O排放通量的观测结果,定量评价秸秆还田对关中平原冬小麦-夏玉米农田土壤固碳速率、N2O年排放量和全球增温潜势的影响...     

兽用抗生素磺胺二甲嘧啶对麦田NH3挥发的影响

为了研究磺胺类兽药抗生素对麦田NH₃挥发的影响,采用了田间原位观测试验,对比分析了不同浓度磺胺二甲嘧啶（SMZ）在不同氮肥类型条件下对麦田NH₃挥发的影响.试验共设9个处理,分别为：无氮肥无抗生素（CK）;复合肥为基肥,分别加施0,5,15,30mg/kg土的磺胺二甲嘧啶处理（CF、CF+SMZ5、CF+SMZ15、CF+SMZ30）;猪粪为基肥,分别加施0,5,15,30mg/kg土的磺胺二甲嘧啶处理（CM、CM+SMZ5、CM+SMZ15、CM+SMZ30）.所有施肥处理追肥均为尿素.结果表明：基肥阶段各处理之间的NH₃挥发速率无显著差异（P > 0.05）,追肥阶段各处理之间有极显著差异（P<0.01）,中高浓度SMZ表现为明显的促进作用（P<0.05）.整个观测期,CF、CF+SMZ5、CF+SMZ15、CF+SMZ30和CM、CM+SMZ5、CM+SMZ15、CM+SMZ30处理的NH₃-N损失百分比分别为5.5%、6.6%、13.9%、10.7%、11.0%、12.4%、11.9%、16.9%,其中CF+SMZ15、CF+SMZ30和CM+SMZ30处理显著增加了NH₃-N挥发累积量（P<0.05）,其导致的NH₃-N损失比分别是同种基肥零抗生素添加的2.5、2.0和1.5倍,表明磺胺二甲嘧啶与复合肥的混施对土壤NH₃挥发的促进效应要高于与猪粪的同步混施.兽药抗生素对土壤NH₃挥发的影响不容忽视.因此,需大力加强对兽药抗生素的管控,并进一步探明不同兽药抗生素对土壤NH₃挥发的影响机制,为减缓兽用抗生素的环境污染生态效应作支撑.     

Preimplantation genetic diagnosis for single gene disorders: experience with five single gene disorders

We report our experience of 14 preimplantation genetic diagnosis (PGD) cycles in eight couples carrying five different single gene disorders, during the last 18 months. Diagnoses were performed for myotonic dystrophy (DM), cystic fibrosis (CF) [ΔF508 and exon 4 (621+1 G>T)], fragile X and CF simultaneously, and two disorders for which PGD had not been previously attempted, namely neurofibromatosis type 2 (NF2) and Crouzon syndrome. Diagnoses for single gene disorders were carried out on ideally two blastomeres biopsied from Day 3 embryos. A highly polymorphic marker was included in each diagnosis to control against contamination. For the dominant disorders, where possible, linked polymorphisms provided an additional means of determining the genotype of the embryo hence reducing the risk of misdiagnosis due to allele dropout (ADO). Multiplex fluorescent polymerase chain reaction (F-PCR) was used in all cases, followed by fragment analysis and/or single-stranded conformation polymorphism (SSCP) for genotyping. Embryo transfer was performed in 13 cycles resulting in one biochemical pregnancy for CF, three normal deliveries (a twin and a singleton) and one early miscarriage for DM and a singleton for Crouzon syndrome. In each case the untransferred embryos were used to confirm the diagnoses performed on the biopsied cells. The results were concordant in all cases. The inclusion of a polymorphic marker allowed the detection of extraneous DNA contamination in two cells from one case. Knowing the genotype of the contaminating DNA allowed its origin to be traced. All five pregnancies were obtained from embryos in which two blastomeres were biopsied for the diagnosis. Our data demonstrate the successful strategy of using multiplex PCR to simultaneously amplify the mutation site and a polymorphic locus, fluorescent PCR technology to achieve greater sensitivity, and two-cell biopsy to increase the efficiency and success of diagnoses. Copyright © 2002 John Wiley & Sons, Ltd.