Prenatal diagnosis of a 45,X male with a SRY-bearing chromosome 21

Male phenotype associated with a 45,X karyotype is an infrequent finding. We present a case diagnosed prenatally on amniocentesis performed for maternal age. The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21. By DNA analysis we could show that the X chromosome was of maternal origin and that the breakpoint was in interval 3 of the Y chromosome. Mechanisms and genetic counselling are discussed based on a review of published cases of 45,X and XX males. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal diagnosis of Apert syndrome: report of two cases

Two de novo cases with Apert Syndrome detected prenatally are presented herein. In the first, fetal ultrasound findings of syndactyly of the hands, craniosynostosis and proptosis resulted in a prenatal diagnosis in the nineteenth week of gestation. This is the earliest prenatal diagnosis of this syndrome in a not-at-risk case. Following counseling, this pregnancy was terminated and subsequent pathological examination and DNA analysis confirmed the diagnosis of Apert Syndrome and coarctation of the aorta. In the second case, fetal ultrasound at 21 weeks' gestation revealed a hypoplastic left heart and clover-leaf skull. Following counseling, this pregnancy was also terminated. Further examination of the fetus and DNA analysis led to a diagnosis of Apert Syndrome. These cases emphasize the need to complete a thorough fetal ultrasound in cases with potentially lethal cardiac abnormality and the importance of incorporating a fetal pathologist, as well as a medical geneticist, in the investigations performed after delivery or pregnancy termination when a fetal abnormality is detected on ultrasound. Copyright © 2003 John Wiley & Sons, Ltd.     

The Impact of Agriculture On Dissolved Nitrogen and Phosphorus Cycling in Temperate Ecosystems

Although most research has focussed on inorganic nutrient forms of nitrate (NO^-₃) and phosphorus (PO³₄) in runoff and receiving waters, nitrogen loss from agricultural land can also occur in organic and ammonium-nitrogen form; phosphorus losses, although often dominated by particulate transport, may occur in soluble organic and inorganic form. Furthermore, fluxes between different species may take place during transport from the land to the stream and as a result of in-stream, in-river or in-lake transformations. Knowledge of the spatial and temporal variation in all nitrogen species and phosphorus fractions in a drainage basin is therefore essential if the wider environmental significance of elevated nutrient concentrations in natural waters are to be assessed. This paper reviews recent work on N and P losses from agricultural land and presents some results from two intensive agricultural catchments: Slapton, Devon and the river Windrush catchment in the Cotswolds.     

Multicriteria Group Decision-making Model for Environmental Conflict Analysis in the Cape Region,Mexico

This paper is concerned with developing a model for group decision making under multiple criteria. The multiple criteria group decision making (MCGDM)problem involves a set of feasible land use patterns that are evaluated on the basis of multiple, conflicting and noncommensurate criteria by a group of individuals. The model integrates the Analytic Hierarchy Process (AHP) and an integer mathematical programming method. The former provides a tool for structuring the decision problem and determining land suitability for different socio-economicactivities (the uses of land), the latter is used to identify the land use pattern that maximizes consensus among interest groups. The model is used to analyze environmental conflict over land resource allocation in the Cape Region of Mexico.     

Outcomes of Collaborative Water Policy Making: Applying Complexity Thinking to Evaluation

Collaborative policy making has become increasingly significant in environmental management, but it is often evaluated by whether or not agreement is reached and implemented. The most important outcomes of such policy dialogues are often invisible or undervalued when seen through the lens of a traditional, modernist paradigm of government and accountability. These dialogues represent a new paradigm of governance that can be best understood in the light of a complex adaptive system model of society. From this perspective collaborative policy making is a way of making a system more flexible, adaptive and intelligent. The authors document such outcomes in three cases of water policy making in California, including the San Francisco Estuary Project, the CALFED Bay-Delta Program and the Sacramento Area Water Forum. The outcomes include social and political capital, agreed-on information, the end of stalemates, high-quality agreements, learning and change, innovation and new practices involving networks and flexibility.     

Exploring Chemical Variables in Ligustrum lucidum Ait. F. Tricolor (Rehd.) Rehd. in Relation to Air Pollutants and Environmental Conditions

Ligustrum lucidum Ait. f. tricolor (Rehd.) Rehd. in relation to atmospheric pollutants in Córdoba city, Argentina. The study area receives regional pollutants and was categorized taking into account traffic level, industrial density, type of industry, location of the sample point in relation to the street corner, treeless condition, and topographic level. Dried weight/fresh weight ratio (DW/FW) and specific leaf area (SLA) were calculated, and concentrations of chlorophylls, carotenoids, total sulfur, soluble proteins, malondialdehyde (MDA), and hydroperoxy conjugated dienes (HPCD) were determined in leaf samples. Sulfur content correlates positively with traffic density and SLA correlates negatively with some combinations of the categorical variables; MDA correlates positively with topographic level and total protein concentration correlates negatively with treeless condition. On the basis of our results, traffic, location of trees, type of industry, situation of a tree with respect to others, and topographic level are the environmental variables to bear in mind when selecting analogous sampling points in a passive monitoring program. An approximation to predict tree injury may be obtained by measuring DW/FW ratio, proteins, pigments, HPCD, and MDA as they are responsible for the major variability of data.     

DNA sequence evidence for speciation,paraphyly and a Mesozoic dispersal of cancellothyridid articulate brachiopods

Because the classification of extant and fossil articulate brachiopods is based largely upon shell characters observable in fossils, it identifies morphotaxa whose biological status can, in practice, best be inferred from estimates of genetic divergence. Allozyme polymorphism and restriction fragment length polymorphism of mitochondrial DNA (mtDNA RFLP) have been used to show that nuclear and mitochondrial genetic divergence between samples of the cancellothyridid brachiopods Terebratulina septentrionalis from Canada and T. retusa from Europe is compatible with biological speciation, but the genetic distances obtained were biased by methodological limitations. Here, we report estimates of divergence in 12S rDNA mitochondrial sequences within and between samples of these brachiopods. The sequence-based genetic distance between these samples (5.98ǂ.07% SE) is at least 10 times greater than within them and, since they also differ in a complex life-history trait, their species status is considered to be securely established. Divergence levels between 12S rDNA genes of three other cancellothyridids, T. unguicula from Alaska, T. crossei from near Japan, and Cancellothyris hedleyi from near Australia are higher than between the two North Atlantic species, and the mean nucleotide distance between all these cancellothyrids is similar to the mean distance between species of Littorina (Mollusca: Gastropoda). Sequences of both 12S and 16S genes from cancellothyridids and other short-looped brachiopod species show neither saturation nor lineage-specific rate differences and, when analysed with different outgroups, either separately or together, yield one unexpected, but well-supported, tree with Alaskan T. unguicula basal and C. hedleyi nested within Terebratulina, i.e. these genera are paraphyletic. A geologically dated divergence between Antarctic and New Zealand species of the short-looped brachiopod Liothyrella is used to calibrate the rate of 12S divergence at ca. 0.1% per million years (MY), and this rate is used to infer that T. septentrionalis and T. retusa have been diverging for ca. 60 MY and that they and T. unguicula have been diverging from their last common ancestor for ca. 100 MY. This indicates a Mesozoic origin for the present-day distribution of cancellothyridids and the basal position of T. unguicula suggests a possible North Pacific centre of origin, with separate Atlantic and Pacific radiations. The inclusion of Cancellothyris within Terebratulina also shows that adult shell characters such as umbo, foramen and symphytium shape, whilst probably indispensible for the practical classification of fossils, are not reliable guides to genealogy.     

Exoautometabolic regulation of transgenes in microorganisms

Data on the existence of a specific system regulating the growth, size, and structure of enterobacterial populations are first summarized in terms of the chemical ecology concept formulated by S.S. Shvarts. The role of this system in transgene functioning is described using the example of the lux operon integrated into Escherichia coli. A relatively simple test for estimating such interactions is proposed.Translated from Ekologiya, No. 2, 2005, pp. 91–96.Original Russian Text Copyright © 2005 by Pshenichnov, Maslennikova, Nikitina.     

A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis

Single cell polymerase chain reaction (PCR) for preimplantation genetic diagnosis (PGD) requires high efficiency and accuracy. Allele dropout (ADO), the random amplification failure of one of the two parental alleles, remains the most significant problem in PCR-based PGD testing since it can result in serious misdiagnosis for compound heterozygous or autosomal dominant conditions. A number of different strategies (including the use of lysis buffers to break down the cell and make the DNA accessible) have been employed to combat ADO with varying degrees of success, yet there is still no consensus among PGD centres over which lysis buffer should be used (ESHRE PGD Consortium, 1999 ). To address this issue, PCR amplification of three genes (CFTR, LAMA3 and PKP1) at different chromosomal loci was investigated. Single lymphocytes from individuals heterozygous for mutations within each of the three genes were collected and lysed in either alkaline lysis buffer (ALB) or proteinase K/SDS lysis buffer (PK). PCR amplification efficiencies were comparable between alkaline lysis and proteinase K lysis for PCR products spanning each of the three mutated loci (ΔF508 in CFTR 90% vs 88%; R650X in LAMA3 82% vs 78%; and Y71X in PKP1 91% vs 87%). While there was no appreciable difference between ADO rates between the two lysis buffers for the LAMA3 PCR product (25% vs 26%), there were significant differences in ADO rates between ALB and PK for the CFTR PCR product (0% vs 23%) and the PKP1 PCR product (8% vs 56%). Based on these results, we are currently using ALB in preference to PK/SDS buffer for the lysis of cells in clinical PGD. Copyright © 2001 John Wiley & Sons, Ltd.