Mosaicism for trisomy 12: Four cases with varying outcomes

Trisomy 12 observed in chorionic villus sampling (CVS) may reflect generalized mosaicism or indicate mosaicism confined to only the placenta. In this report, four cases of trisomy 12 observed in CVS or cultured placental biopsies with varying outcomes are presented. Seven dinucleotide repeat polymorphisms for chromosome 12 were used to determine the chromosome 12 origins in the fetus or child and to delineate the mechanism(s) that gave rise to the trisomy. In two cases (cases A and C), the mosaicism was confined to the placenta, resulting in normal liveborns. Although, in one case, the molecular results suggested an apparent duplication of one paternal chromosome 12 in the placenta, normal biparental inheritance was found in the diploid fetal cell line in both cases. In two other cases (cases B and D), trisomy 12 was observed in both extraembryonic and fetal tissues. In one of these pregnancies, a child was born by Caesarean section at 37 weeks because of intrauterine growth retardation and oligohydramnios, and resulted in neonatal death. Molecular markers and fluorescence in situ hybridization (FISH) revealed low-level trisomy 12 mosaicism in the spleen. In the fourth case, fetal abnormalities were detected on ultrasound and low-level trisomy 12 mosaicism was observed in amniotic fluid cells using conventional cytogenetics and FISH. Molecular markers revealed a maternal meiosis I non-disjunction of chromosome 12 in DNA from a cultured placental biopsy. Although predicting the outcomes of pregnancies involving confined placental mosaicism remains difficult, molecular techniques are valuable tools for distinguishing uniparental from biparental disomy and mechanisms of mosaicism.     

Elevated alpha-fetoprotein and human chorionic gonadotropin as a marker for placental trisomy 16 in the second trimester?

In a series of 2961 consecutive cases with second-trimester biochemical triple screening for Down's syndrome and neural tube defect (NTD), ten (0.3 per cent) showed an apparent increased risk for both conditions. Three cases had chromosomal abnormalities, namely trisomy 16 confined to the placenta. Since placental trisomy 16 as well as cases with increased alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) are associated with (intrauterine growth retardation (IUGR), oligohydramnios, and fetal demise, at least some cases with this atypical biochemical profile could be explained by this chromosomal abnormality. From our results we recommend that in cases with increased risk for both Down's syndrome and NTD, fetal karyotyping should preferably be done on a placental biopsy, especially when ultrasound in the absence of anomalies demonstrates early IUGR.     

太原市大气扩散示踪试验

太原市位于山西中部,东、西两山夹峙,汾河南北中贯,地形北部较高,南部开放,西部有一缺口,是一个封闭不完全的盆地。风速较小,1971—1980年平均风速为2.5m/s,静风频率为24％。在无系统天气过境时,近地层气象十分复杂,城南和城北、河东和河西的地面风往往不同。 近年来,太原市大气污染日趋严重,我们于1985年10—11月在太原地区进行了大气扩散示踪试验,以期能对该地区大气污染物的输送和扩散有所了解。     

高浓度电镀废水的处理

介绍了某自行车厂电镀车间高浓度电镀废水处理工艺的设计；结合工艺运行的调试，对设计缺陷进行了分析。     

Two-site kinetic modeling of bacteriophages transport through columns of saturated dune sand

Breakthrough curves, on a semi-log scale, from tests in porous media with block-input of viruses, bacteria, protozoa and colloidal particles often exhibit a typical skewness: a rather slowly rising limb and a smooth transition of a declining limb to a very long tail. One-site kinetic models fail to fit the rising and declining limbs together with the tail satisfactorily. Inclusion of an equilibrium adsorption site does not seem to improve simulation results. This was encountered in the simulation of breakthrough curves from a recent field study on the removal of bacteriophages MS2 and PRD1 by passage through dune sand. In the present study, results of laboratory experiments for the study of this issue are presented. Breakthrough curves of salt and bacteriophages MS2, PRDI, and phiX174 in 1 D column experiments have been measured. One- and two-site kinetic models have been applied to fit and predict breakthrough curves from column experiments. The two-site model fitted all breakthrough curves very satisfactorily, accounting for the skewness of the rising limb as well as for the smooth transition of the declining limb to the tail of the breakthrough curve. The one-site model does not follow the curvature of the breakthrough tail, leading to an overestimation of the inactivation rate coefficient for attached viruses. Interaction with kinetic site 1 is characterized by relatively fast attachment and slow detachment, whereas attachment to and detachment from kinetic site 2 is fast. Inactivation of viruses and interaction with kinetic site 2 provide only a minor contribution to removal. Virus removal is mainly determined by the attachment to site 1. Bacteriophage phiX174 attached more than MS2 and PRD1, which can be explained by the greater electrostatic repulsion that MS2 and PRD1 experience compared to the less negatively charged phiX174.     

某电厂堆灰场附近浅层地下水中Cr6+的成因及治理措施

分析了焦作某电厂堆灰场附近浅层地下水中Cr6+ 的形成原因。根据该区水文地质背景 ,提出在地下污染水羽的下游建可渗透反应墙的漏斗 -通道系统 ,用对Cr6+ 有很高去除效率的风化煤作为反应材料 ,使污染水羽流经此系统时有效去除地下水中的Cr6+ ,达到净化的目的     

取代芳烃对呆鲦鱼急性毒性的QSAR研究

应用密度泛函方法(DFT)在B3LYP/6-311G**水平上全优化计算25个取代芳烃的量子化学参数,结合疏水性参数与化合物对呆鲦鱼的急性毒性进行定量构效关系研究(QSAR)。经逐步回归筛选变量后,所建多元线性回归方程的相关系数R及去一法交互检验复相关系数R2cv分别为0.967和0.907。用预测集样本进行了外部预测,所得外部预测样本复相关系数R2ext和外部预测集交互检验Q2ext分别为0.881和0.836。模型结果显示:分子疏水性参数logP较大时具有较大的脂溶性,化合物的毒性较大;取代基的吸电子能力越强,苯环的正电性越大,化合物的毒性越大。     

非活体生物质对含铬废水的吸附研究

研究了非活体生物质——玉米芯对Cr^6＋的吸附作用,并探讨了溶液的pH值、Cr^6＋初始浓度、吸附时间及温度等因素对Cr^6＋吸附效果的影响。结果表明,改性玉米芯对C,有很好的吸附作用,在温度为33℃,Cr^6＋初始质量浓度为20mg/L的Cr^6＋溶液50mL,溶液的pH值为2．0,改性玉米芯用量为1．0g,振荡时间为120min的条件下,改性玉米芯对Cr^6＋的吸附率达到了98．16％。     

SAFUIT/UF6环境评价模型验证与应用

作为核燃料循环过程中一种兼具辐射危害和化学毒性的中间产物,UF6的泄漏事故,特别是事故的环境评价技术越来越受到人们的重视.SAFUIT/UF6是专门针对此类事故的环境评价模型,目前已经开展了初步的验证工作.根据1987年法国UF6释放实验条件,对SAFUIT/UF6模型计算结果进行了误差分析,并与HG-SYSTEM/UF6模型进行了对比.初步认为SAFUIT/UF6模型可准确地模拟UF6扩散.此外,SAFUIT/UF6模型在某设施核事故应急评价系统中也得到了应用.     

液相色谱-串联质谱法检测甲醛暴露产生的两种DNA加合物

针对两种甲醛-DNA加合物,N~6-羟甲基腺嘌呤(N~6-HOMe-d A)和N2-羟甲基鸟嘌呤(N_2-HOMe-d G),本实验室建立了基于液相色谱串联质谱的分析方法,以便从DNA分子水平上探讨甲醛暴露对DNA的损伤作用机理,其中[~(15)N_5]N~6-Me-d A和[~(13)C_(10)~(15)N_5]N_2-Me-d G为内标;液相分离所用色谱柱为Thermo Polar Advantage II C_(18);方法的精密度较好(RSD5%)、灵敏度较高(检出限分别为0.014和0.0064 ng·m L~(-1))、回收率良好(94.9%~111%).后用小牛胸腺DNA进行体外染毒实验,设置甲醛染毒的浓度梯度(0.001,0.01,0.05,0.1,0.5和1 mmol·L~(-1))和染毒时间组(0、2、4、8、12、16、24 h),利用建立的LC-MS/MS方法检测了DNA中N~6-HOMe-d A和N_2-HOMe-d G的含量.结果表明,两种甲醛-DNA加合物N~6-HOMe-d A和N2-HOMe-d G的量与甲醛暴露存在剂量-反应和时间-反应关系.