Prenatal diagnosis of Crigler–Najjar syndrome type I by single-strand conformation polymorphism (SSCP)

Crigler–Najjar syndrome type I (CN-I) is a rare and severe inherited disorder of bilirubin metabolism, caused by the total deficiency of bilirubin-UDP-glucuronosyltransferase (UGT) activity. Enzymatic diagnosis cannot be performed in chorionic villi or amniocytes as UGT is not active in these tissues. The cloning of the UGT1 gene and the identification of disease-causing mutations have led to the possibility of performing DNA-based diagnosis. Here we report DNA-based prenatal diagnosis of CN-I in two Tunisian families in whom CN-I patients were diagnosed. As we had previously shown that CN-I was, in Tunisia, associated with homozygosity for the Q357R mutation within the UGT1 gene, we were able to detect this mutation in both families and to show that it was easily recognized by single-strand conformation polymorphism (SSCP) analysis. In both cases, SSCP analysis of fetal DNA showed that the fetus was heterozygous for the Q357R mutation. In one family, the pregnancy was carried to term and a healthy baby was born, whereas, in the other family, the pregnancy is still continuing. Thus the prenatal diagnosis of CN-I is possible, provided disease-causing mutations have been identified. SSCP analysis of DNA prepared either from amniocytes or from chorionic villi is a simple, reliable and fast method for prenatal diagnosis. Copyright © 2002 John Wiley & Sons, Ltd.     

Operator-splitting procedures for reactive transport and comparison of mass balance errors

Operator-splitting (OS) techniques are very attractive for numerical modelling of reactive transport, but they induce some errors. Considering reactive mass transport with reversible and irreversible reactions governed by a first-order rate law, we develop analytical solutions of the mass balance for the following operator-splitting schemes: standard sequential non-iterative (SNI), Strang-splitting SNI, standard sequential iterative (SI), extrapolating SI, and symmetric SI approaches. From these analytical solutions, the operator-splitting methods are compared with respect to mass balance errors and convergence rates independently of the techniques used for solving each operator. Dimensionless times, NOS, are defined. They control mass balance errors and convergence rates. The following order in terms of decreasing efficiency is proposed: symmetric SI, Strang-splitting SNI, standard SNI, extrapolating SI and standard SI schemes. The symmetric SI scheme does not induce any operator-splitting errors, the Strang-splitting SNI appears to be O(N2OS) accurate, and the other schemes are first-order accurate.     

A LANDSCAPE‐BASED APPROACH TO ESTIMATE RIPARIAN HYDROLOGICAL AND NITRATE REMOVAL FUNCTIONS1

ABSTRACT: This study evaluates a conceptual model developed for riparian zones in Ontario, Canada, that links landscape hydrogeological characteristics to riparian ground water hydrology and nitrate removal efficiency. Data from a range of riparian sites in the United States and Europe suggest that the riparian zone types identified in the model are consistent with patterns of riparian hydrology and nitrate flux and removal in many humid temperate landscapes. These data also support the view that a riparian width of less than 20 m is often sufficient for effective nitrate removal unless riparian sediments are coarse grained or nitrate transport occurs mainly in surface‐fed ground water seeps. This study assesses the possibility of using topographic, soil, surficial geology, and vegetation maps to determine landscape attributes linked by the model to riparian zone hydrological functioning and nitrate removal efficiency. Although mappable data can help in determining broad classes of riparian zones, field visits are necessary to determine non‐mappable riparian attributes such as seeps, organic horizons, and permeable sediment depth in the riparian zone. This research suggests that the conceptual model could be used for landscape management purposes in most temperate landscapes with minor modifications and that the hydrological component of the model could be adapted for contaminants other than nitrate.     

Evidence for a Neoproterozoic carbonate ramp on the northern edge of the Central African craton: relations with late Proterozoic intracratonic troughs

During Late Proterozoic times, the Archaean Central African craton was affected by trough faulting which led to the formation of grabens, the Sangha aulacogen being the main structure of this type in the studied area. This transverse basin connects with other basins on the northern and south-western borders of the craton. During the Cryogenian, this network of basins was filled with fluvio-deltaic and lacustrine periglacial deposits. The glacio-eustatic transgression in Neoproterozoic III (end-Proterozoic) times flooded extensive areas of shelf on the northern edge of the craton, leading to the development of carbonate sedimentation in a broad outer shelf environment associated with nearshore barriers and evaporitic lagoons. These facies are similar to those developed in the West Congolian Schisto-calcaire (shale-limestone) ramp succession. The North-Central African ramp succession (sediment slope) contains an example of tidal rhythmites in vertical accretion, which occurs beneath the barrier deposits on the subtidal outer shelf. Mathematical analysis of the bedding pattern yields a period of 29–30 days for the lunar month, a result which is in agreement with astrophysical evidence for this epoch (i.e. 650 Ma ago). Major subsidence and seismic activity on this gently sloping platform, associated with the proximity of the Sangha aulacogen, caused the triggering of carbonate turbidites and mass flow deposits. The proliferation of microbial mats under euphotic conditions on an extensive shelf led to the build-up of a carbonate platform. During early Neoproterozoic III times, the West Congolian and North-Central African ramps prograded northwards and southwards, respectively, into the Sangha aulacogen. The sea at that time was restricted to a long graben-like basin, while a remaining area of marine sedimentation persisted into the Palaeozoic. Thus the pattern of end-Proterozoic carbonate sedimentation on the borders of the Central African craton can be interpreted in terms of an overall gently sloping ramp model with progradation converging towards the Sangha aulacogen.     

Nitrate reductase activity in Zostera marina

Eelgrass (Zostera marina L.) has access to nutrient pools in both the water column and sediments. We investigated the potential for eelgrass to utilize nitrate nitrogen by measuring nitrate reductase (NR) activity with an in vivo tissue assay. Optimal incubation media contained 60 mM nitrate, 100 mM phosphate, and 0.5% 1-propanol at pH 7.0. Leaves had significantly higher NR activity than roots (350 vs 50 nmoles NO ₂ ^– produced g FW^–1 h^–1). The effects of growing depth (0.8 m MLW, 1.2 m, 3.0 m, 5.0 m) and location within the eelgrass meadow (patch edge vs middle) on NR activity were examined using plants collected from three locations in the Woods Hole area, Massachusetts, USA, in July 1987. Neither depth nor position within the meadow appear to affect NR activity. Nitrate enrichment experiments (200 M NO ₃ ^– for 6 d) were conducted in the laboratory to determine if NR activity could be induced. Certain plants from shallow depth (1.2 m) showed a significant response to enrichment, with NR activity increasing from >100 up to 950 nmoles NO ₂ ^– g FW^–1 h^–1 over 6 d. It appears that Z. marina growing in very shallow water (0.8 m) near a shoreline may be affected by ground water or surface run-off enrichments, since plants from this area exhibited rates up to 1 600 nmol NO ₂ ^– g FW^–1 h^–1. Water samples from this location consistently had slightly higher NO ₃ ^– concentrations (1.4 M) than all other collection sites (0.7 M). Thus, it is possible that chronic run-off or localized groundwater inputs can create sufficient NO ₃ ^– enrichment in the water column to induce nitrate reductase activity in Zostera leaves.     

„Artifizielle“ Chromosomen

The structural elements required for chromosome replication, segregation, and stability are replication origins, centromeres, and telomeres. DNA sequences capable of organizing these three elements have been isolated from yeast chromosomal DNA by means of recombinant DNA techniques and yeast cell transformation. It is now possible to combine these sequences into "artificial" chromosomes for yeast cells to obtain more insight into chromosome structure and function. Evidence is presented that the construction of artificial chromosomes functional in higher eukaryotes will be possible in the near future.