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.     

On climbing trees: an Australian perspective on sustainability and political risk>

This paper examines how political risk taking is necessary for gains in sustainability. It provides a personal perspective covering some of the key turning points in Australia (and some global examples) to demonstrate how policy innovation in sustainability will always require political leaders to go out on a limb and then in hindsight the policy will be seen as obvious and normal. The key components of sustainability (vision, interdisciplinary, geographical and sectoral synergies) are used to illustrate stories of tree climbing. Some deeper levels of sustainability applied to thinking, creativity, belonging and spirituality are then used as the framework for illustrating the significance of political risk taking for sustainability.     

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.     

Greening the Fife Economy: Ecological Modernization as a Pathway for Local Economic Development

Progress in the greening of UK local government has been hampered by uncertainty about the relationship between resource use and environmental protection. Ecological modernizationmay offer the most appropriateparadigm to reconcile economic, social and environmentalinterpretationsof sustainability. The transition from corporate to strategic environmental management currently being attempted by some 'green' authorities can be construed as an attempt to promote ecological modernization in the form of institutional learning. Fife Council in Scotland provides an interesting case study. Progress with corporate environmental management has become bound up with a radical devolution of decision making. Efforts to link the authority's Sustainable Development Policy to a Local Agenda 21 programme have been initiated with the piloting of sustainability indicators.     

Toxicological Assessment of Wastewater and Runoff from the Baikal Pulp and Paper Mill

Russian Journal of Ecology -