Prenatal diagnosis of trisomy for the distal two-thirds of the long arm of chromosome 14 (q21→qter)

A de novo case of ‘pure’ trisomy 14q21 → qter is described which was detected at amniocentesis following an abnormal ultrasound scan of a 25–year-old woman. This is apparently the largest distal 14q duplication reported in a case surviving beyond the first trimester. The infant apipeared to have an association of clinical abnormalities previously observed in distal 14q trisomy and proximal 14q trisomy/mosaic trisomy 14.     

Interstitial deletions without phenotypic effect: Prenatal diagnosis of a new family and brief review

A 39-year-old woman (G4P1SAB2) was referred for amniocentesis for advanced maternal age. An interstitial deletion of the G-dark band 11 pi 2 was found in the fetus. Blood from the mother and her previous son was cultured and the same deletion was found in both. The absence of phenotypic effect in this family further confirms that G-dark euchromatic deletions are compatible with a normal phenotype, and underlines the importance of checking familial karyotypes even when apparently unbalanced structural rearrangements are found at prenatal diagnosis.     

Cross-hybridization of the chromosome 13/21 alpha satellite DNA probe to chromosome 22 in the prenatal screening of common chromosomal aneuploidies by fish

In a routine application of commercially available centromeric DNA probes for the prenatal screening of common trisomies involving the autosomes 13, 18, and 21, and sex chromosomes, four cases of discrepancy between fluorescence in situ hybridization (FISH) results and follow-up cytogenetic analysis were observed from a total of 516 cases of amniocentesis. In three of these cases, the results were false negative, and in one false positive. In this case, amniocentesis was performed because of a positive triple test in a 34-year-old woman with previous infertility treatment. The alpha satellite DNA probe for chromosomes 13/21 revealed five signals in 50 per cent of uncultured amniocytes, while standard cytogenetic analysis showed a normal karyotype. FISH analysis on metaphase chromosomes demonstrated the location of the additional signal in the centromeric region of chromosome 22. This additional signal was also present in the centromeric region of chromosome 22 of the mother, providing evidence for a possible inherited polymorphism in chromosome 22 responsible for unspecific hybridization with the alpha satellite probe for chromosomes 13/21 in this case. The observed polymorphism in centromeric regions may contribute to unreliability of the use of the 13/21 alpha satellite probe for prenatal screening by FISH.     

Investigation of fault position and sources of radon by measurement of 238U decay series radionuclide activity in soil samples

North Derbyshire is designated a Radon Affected Area by the National Radiological Protection Board of Great Britain since more than 1% of the housing stock is estimated to have radon levels in excess of the 200 Bq m-3 Action Level. Enhanced radon emissions associated with geological faults make knowledge of their position important in relation to any potential residential or industrial development. A general survey of radionuclides present in the soils of north Derbyshire and their relationship to the underlying geology highlighted the difficulty of identifying the position of geological faults in the field. Using gamma-ray spectroscopy of soil samples the activity of three 238U decay series radionuclides (226Ra, 214Pb and 214Bi), which were taken as evidence of the presence of 222Rn which occurs in the same decay series, was measured to indicate the position of a fault by enhanced activity. The results also provided some evidence of the source of radon emitted at the fault. A comparison of this methodology with the more conventional soil gas analysis method is made.     

Aphid alarm pheromone (E)-β-farnesene: A host finding kairomone for the aphid primary parasitoidAphidius uzbekistanicus (Hymenoptera: Aphidiinae)

Summary The present study aimed to test the possible function of the aphid alarm pheromone (E)--farnesene (EBF) as a host finding kairomone for aphid primary parasitoids. Extracts of volatile emissions of undisturbed aphids and of aphids under parasitoid attack were obtained by air entrainment. Extracts of cornicle secretions were gained by disturbing aphids and taking their secretions into solution. Extracts were compared by gas chromatography. Only air entrainments of aphids under attack and solvent extracts of cornicle secretions contained the alarm pheromone. In Y-tube olfactometer bioassays, femaleA. uzbekistanicus were attracted to aphid groups under attack of parasitoids, presumably by released EBF. High concentrations of synthetic EBF (1.4 µg to 5.7 µg) also attractedA. uzbekistanicus females. Females with oviposition experience reacted more readily to lower concentrations of EBF than females without experience. In experiments designed as Petri-dish bioassays, the test animals could contact filter paper discs that were treated with solutions containing EBF. Behavioural effects like antennation or stinging attack were not observed. With computer video analysis of parasitoid movements, some effects onA. uzbekistanicus behaviour were detected, again indicating attraction to EBF.As the volatile aphid alarm pheromone attractedA. uzbekistanicus females, it can be concluded that this chemical stimulus acts as a host finding kairomone for this parasitoid species. However, its effect over long distances seems to be limited due to the relatively high concentrations required for reactions. Of two other parasitoid species examined (P. volucre andL. testaceipes) onlyP. volucre was also significantly attracted to the volatile EBF in the Y-tube olfactometer.     

Is there a relationship between soil and groundwater toxicity?

Part IIA of the Environmental Protection Act 1990 requires environmental regulators to assess the risk of contaminants leaching from soils into groundwater (DETR, 1999). This newly introduced legislation assumes a link between soil and groundwater chemistry, in which rainwater leaches contaminants from soil into the saturated zone. As the toxicity of both groundwater and overlying soils is dependent upon the chemicals present, their partitioning and their bioavailability, similar patterns of soil, leachates and groundwater toxicity should be observed at contaminated sites. Soil and groundwater samples were collected from different contaminated land sites in an urban area, and used to determine relationships between soil chemistry and toxicity, mobility of contaminants, and groundwater chemistry and toxicity. Soils were leached using water to mimic rainfall, and both the soils and leachates tested using bioassays. Soil bioassays were carried out using Eisenia fetida, whilst groundwater and leachates were tested using the Microtox test system and Daphnia magna 48 h acute tests. Analysis of the bioassay responses demonstrated that a number of the samples were toxic to test organisms, however, there were no significant statistical relationships between soil, groundwater and leachate toxicity. Nor were there significant correlations between soil, leachates and groundwater chemistry.     

Dynamics of Turbulence in Low-Speed Oscillating Bottom-Boundary Layers of Stratified Basins

This paper focuses on the impact of an oscillating low-speed current on the structure and dynamics of the bottom-boundary layer (BBL) in a small stratified basin. A set of high-resolution current profile measurements in combination with temperature-microstructure measurements were collected during a complete cycle of the internal oscillation (`seiching') in the BBL of Lake Alpnach, Switzerland. It was found that even a relatively long seiching period of 24 hours significantly changed the form of the near-bottom current profiles as well as the dynamics of the turbulent dissipation rate compared to the steady-state law-of-the-wall. A logarithmic fit to the measured current profiles starting at a distance of 0.5 m above the sediment led to inconsistent estimates of both friction velocity and roughness length. Moreover, a phase lag between the current and the turbulent dissipation of 1.5 hours and a persistent maximum in the current profile at a height of 2.5 to 3 m above the sediment were observed. The experimental findings were compared to the results of a k- turbulence model and showed good agreement in general. Specifically, the inconsistent logarithmic fitting results and the observed phase lag were reproduced well by the model.     

Prenatal diagnosis of the derivative chromosome 22 associated with cat eye syndrome by fluorescence in situ hybridization

Cytogenetic studies of cultured amniocytes demonstrated a karyotype of 46, XX/47, XX,+mar. A bisatellited, dicentric, distamycin-DAPI negative, NOR-positive marker was present in 76 per cent of the metaphases examined. Similar markers have been associated with cat eye syndrome (CES). We report on the utilization of fluorescence in situ hybridization (FISH) with a 14/22 a-satellite probe and a chromosome 22-specific cosmid for locus D22S9 to determine the origin of the prenatally detected supernumerary marker chromosome. FISH studies demonstrated that the marker is a derivative of chromosome 22 and enabled us to provide the family with additional prognostic information.     

化石燃料结构变化对大气中δ~(13)CO_2的影响

根据煤炭、石油和天然气等化石燃料的CO2排放量及其碳稳定同位素组成,用按比例叠加的方法逐年计算1860~1996年CO2化石燃料源的d13CO2(PDB),用简单全球碳循环模式研究该变化对大气d13CO2的影响,并将计算结果与CMDL近10年的监测数据进行对比.结果表明,化石燃料源的d13CO2在140年内下降了4.5,在碳循环模式中考虑这种动态变化之后,大气d13CO2的模拟结果与同期实测值的相关程度有较大提高.