Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families

Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we report prenatal prediction for 68 fetuses in 63 Turkish SMA families using direct deletion analysis of the SMN1 gene by restriction digestion. The genotype of the index case was known in 40 families (Group A) but unknown in the remaining 23 families (Group B). A total of ten fetuses were predicted to be affected. Eight of these fetuses were derived from Group A and two of these fetuses were from Group B families. Two fetuses from the same family in Group A had the SMNhyb1 gene in addition to homozygous deletion of the NAIP gene. One fetus from Group A was homozygously deleted for only exon 8 of the SMN2 gene, and further analysis showed the presence of both the SMN1 and SMNhyb1 genes but not the SMN2 gene. In addition, one carrier with a homozygous deletion of only exon 8 of the SMN1 gene was detected to have a SMNhyb2 gene, which was also found in the fetus. To our knowledge, these are the first prenatal cases with SMNhyb genes. Follow-up studies demonstrated that the prenatal predictions and the phenotype of the fetuses correlated well in 33 type I pregnancies demonstrating that a careful molecular analysis of the SMN genes is very useful in predicting the phenotype of the fetus in families at risk for SMA. Copyright © 2002 John Wiley & Sons, Ltd.     

DDT in fish from the Bulgarian region of the Black Sea

In spite of a worldwide reduction in the utilization of organochlorine pesticides (OCPs), they are still a problem for the aquatic environment and human health. The Black Sea is still being polluted with persistent chemicals, including OCPs. Aquatic organisms (sprat, scad, bluefish, shad, belted bonito, goby, and black mussel) with different feeding behaviours were sampled on a seasonal basis from the Bulgarian region of the Black Sea, and the concentrations of 13 OCP residues were determined. Although many of the OCPs were not detected in the samples, in all samples 1,1,1-trichloro-2,2-bis(4-chlorophenyl) ethane (DDT) was present mainly in the form of its metabolites 1,1-dichloro-2,2-bis(4-chlorophenyl) ethane (DDD) and 1,1-dichloro-2,2-bis(4-chlorophenyl) ethylene (DDE). Only about 12% of the total DDT was present as the parent compound pp-DDT, which suggests that it was not being used recently in the region. The total DDT concentrations were generally below 150 μg kg^-1 fresh weight, but higher levels—up to 354 μg kg^-1 fresh weight—were also measured for fish species with a high fat content. Between-species differences were observed, even when the concentrations were presented on a fat-level basis. DDT concentrations did not show any significant changes over the 2-yr sampling period. Fish sampled in the northern areas of the Bulgarian Black Sea coast seemed to contain higher DDT levels than those from the southern areas, suggesting a major (historical) influence of the Danube River. For permanent monitoring purposes, the utility of Black Sea gobies and scad should be considered.     

Sustainability: a Dissent

Abstract:  Broadly conceived and considered in its many usages, sustainability has grave defects as a planning goal, particularly when used by conservationists: it confuses means and ends; it is vague about what is being sustained and who or what is doing the sustaining; it is uninspiring; it is little more than Pinchot-era conservation (and thus ignores the many lessons learned since then); it need not be linked to land, to the land's functioning, or to any ecological science; it need not include a moral component; it is consistent with the view of humans as all-powerful manipulators of the planet; and, in general, it is such a malleable term that its popularity provides only a facade of consensus. When sustainability is defined broadly to include the full range of economic and social aspirations, it poses the particular risk that ecological and biodiversity concerns will be cast aside in favor of more pressing human wants. Given these many defects, the conservation movement should discard the term in favor of a more alluring goal, attentive to nature and its ecological functioning. A sound goal would incorporate and distill the considerable ecological and moral wisdom accumulated since Pinchot's day while giving conservationists the rhetorical tools needed to defend the land against competing pressures. In our view, conservation would be well served by an updated variant of "land health," Aldo Leopold's ecologically grounded goal from the 1940s. Land health as an independent understanding should set the essential terms of how we live and enjoy the earth, providing the framework within which we pursue our many social and economic aims.     

Modelling episodic acidification of surface waters: the state of science

Field studies of chemical changes in surface waters associated with rainfall and snowmelt events have provided evidence of episodic acidification of lakes and streams in Europe and North America. Modelling these chemical changes is particularly challenging because of the variability associated with hydrological transport and chemical transformation processes in catchments. This paper provides a review of mathematical models that have been applied to the problem of episodic acidification. Several empirical approaches, including regression models, mixing models and time series models, support a strong hydrological interpretation of episodic acidification. Regional application of several models has suggested that acidic episodes (in which the acid neutralizing capacity becomes negative) are relatively common in surface waters in several regions of the US that receive acid deposition. Results from physically based models have suggested a lack of understanding of hydrological flowpaths, hydraulic residence times and biogeochemical reactions, particularly those involving aluminum. The ability to better predict episodic chemical responses of surface waters is thus dependent upon elucidation of these and other physical and chemical processes.     

Cadmium availability to the cyanobacterium Synechocystis aquatilis in solutions containing chloride

Availability of cadmium to Synechocystis aquatilis (estimated by 109Cd sorption and cadmium toxicity-14C method) in solutions containing cadmium and complexing (KCl) or non-complexing (KNO3) salts, in the range of 0-0.5 m was investigated. Both cadmium surface adsorption and transport into the cells were lower in solutions containing cadmium chloride complexes (CdCl+, CdCl2, CdCl3-) than in those containing cadmium in the form of Cd2+. Also, cadmium toxicity in solutions of higher KCl concentrations, in which CdCl+ and CdCl2 forms predominated, was significantly limited.     

Low frequency of extra-pair paternity in pied flycatchers revealed by DNA fingerprinting

Summary Genetic parentage of 135 nestlings from 27 broods of polygynous and monogamous pied flycatchers Ficedula hypoleuca was analyzed by means of multilocus DNA fingerprinting. The minisatellite probe alpha-globin 3HVR detected approximately 12 scorable bands per fingerprint, and the proportion of bands shared between presumably unrelated adults averaged 0.22+0.08 SD. The fingerprints of 125 of the 135 nestlings made a complete match to those of their putative parents. In 4 nestlings a single mismatched band occurred, but since band sharing with both putative parents was high, the single mismatches were assumed to be caused by mutation. The 6 remaining nestlings had 5 or more mismatched bands each, low band-sharing proportions with their putative father and high band-sharing proportions with their putative mother. We thus conclude that they were all sired through extra-pair copulations (EPCs). Hence, only 4% of nestlings were sired through EPCs, and none resulted from intraspecific brood parasitism. One of the cuckolding males was identified, explaining all 5 mismatched bands in the nestling's fingerprint. Three of the illegitimate nestlings were from primary nests of polygynous males; 3 were from nests of monogamous males. The fact that many males in this study started to advertise for a second female in a distant territory several days before their first mate began egglaying, and still managed to secure almost exclusive paternity in their first brood, suggests that male polyterritoriality is not costly in terms of lost paternity. Common anti-cuckoddry tactics performed by male birds, like high rate of within-pair copulation and continuous mate-guarding thoughout the female's fertilizable period, do not seem to be important in pied flycatchers.Offprint requests to: J.T. Lifjeld