Linkage Disequilibrium Mapping of the Cornea Plana Congenita Gene CNA2

We recently assigned a gene for autosomal recessive cornea plana congenita (CNA2; MIM No. 217300) by linkage analysis to the approximately 3-cM interval between markers D12S82 and D12S327. Here, we extended these studies by exploiting the haplotype and linkage disequilibrium information that can be derived from the genetically isolated Finnish population and its subpopulations. By testing 32 independent families with 10 polymorphic markers in the CNA2 interval, strong allelic association between CNA2 and a set of markers with a peak at marker D12S351 was detected. Based on linkage disequilibrium analysis, the critical region for CNA2 could be narrowed to only 0.04-0.3 cM from marker D12S351, thus defining a critical interval 0.08-0.60 cM in length. These results provide a basis for highly focused positional cloning of CNA2.     

Use of benthic diatom communities to evaluate water quality in rivers of southern Poland

Biological and chemical data were processed to estimate trophic stage and degree of pollution in several streams and rivers in southern Poland. The majority were eutrophic and some of them heavily polluted; only a few were oligo-mesotrophic. The differences in the water quality of the rivers were reflected by different types of diatom community and also by the values for some diatom indices, which were calculated using the latest version of the 'Omnidia' database software. Except for the Sládeček's index, all diatom indices correlated significantly with organic load (COD), oxygen concentration, conductivity and most of the measured ions. Some indices showed a significant negative correlation with trophic level (expressed by NH₄-N and PO₄-P). In general, IPS (Specific Pollution Sensitivity Index) and GDI (Generic Diatom Index) indices gave the best results. Among the investigated diatom communities, only a few taxa indicated oligo-mesotrophy and oligo-β-mesosaprobity. Most of the sites were characterised by a greater relative contribution of eutraphent and tolerant ones as well as α-mesosaprobic and polysaprobic diatoms. This study suggests that the structure of benthic diatom communities and diatom indices, especially GDI, can be applied for monitoring rivers in Poland. This revised version was published online in June 2006 with corrections to the Cover Date.     

Maximum likelihood prediction of lake acidity based on sedimented diatoms

Abstract. As an example of ecological gradient analysis, Gaussian response functions, with Poisson or quasi-Poisson error distribution, were fitted for diatom taxa on a pH gradient. It is possible to predict or infer the pH of lake water from the fitted curves using the method of maximum likelihood, which is easily implemented in standard non-linear regressionprograms. Due to overdis-persion with respect to the Poisson distribution, moment estimates forthe negative binomial distribution were also applied, both in estimating the species response curves and in prediction. Simulations indicated that the theoretical maximum precision (measuredby standard deviation of prediction errors) in our data set was 0.17 pH units. The observed errors were much greater (SD 0.35 to 0.43). It seems that roughly equal proportions of the excess error were caused (1) by systematic differences between the training (estimation) data and the validation (prediction) data, and (2) from a misspecified model. It is suggested that the error due to model misspecification consists of inadequacy of the presumed error distribution and of inadequacy of the simple Gaussian response function.     

Greenhouse gas dynamics in boreal, littoral sediments under raised CO2 and nitrogen supply

SUMMARY 1. The effects of increasing CO₂ and nitrogen loading and of a change in water table and temperature on littoral CH₄, N₂O and CO₂ fluxes were studied in a glasshouse experiment with intact sediment cores including vegetation (mainly sedges), taken from a boreal eutrophic lake in Finland. Sediments with the water table held at a level of 0 or at ?15 cm were incubated in an atmosphere of 360 or 720 p.p.m. CO₂ for 18 weeks. The experiment included fertilisation with NO₃^– and NH₄⁺ (to a total 3 g N m^?2). 2. Changes in the water table and temperature strongly regulated sediment CH₄ and cCO₂ fluxes (community CO₂ release), but did not affect N₂O emissions. Increase in the water table increased CH₄ emissions but reduced cCO₂ release, while increase in temperature increased emissions of both CO₂ and CH₄. 3. The raised CO₂ increased carbon turnover in the sediments, such that cCO₂ release was increased by 16–26%. However, CH₄ fluxes were not significantly affected by raised CO₂, although CH₄ production potential (at 22 °C) of the sediments incubated at high CO₂ was increased. In the boreal region, littoral CH₄ production is more likely to be limited by temperature than by the availability of carbon. Raised CO₂ did not affect N₂O production by denitrification, indicating that this process was not carbon limited. 4. A low availability of NO₃^– did severely limit N₂O production. The NO₃^– addition caused up to a 100‐fold increase in the fluxes of N₂O. The NH₄⁺ addition did not increase N₂O fluxes, indicating low nitrification capacity in the sediments.     

Inherited (13; 14) translocation and reproduction

Summary An inherited translocation chromosome t(13;14) was found in three unrelated families which showed strikingly different types of reproductive disturbances possible associated with the translocation chromosome. Two translocation carrier sisters on the first family had four pregnancies of which one yielded a severely malformed child with a translocation D trisomy and three pregnancies terminated in spontaneous abortions. In the second family the translocation carrier mother had had seven spontaneous abortions, one induced abortion and no normal pregnancies. The foetus of the induced abortion had, unexpectedly, a balanced translocation karyotype identical to the mother's. No obvious ill effects of the translocation chromosome were encountered in the third family, in which the translocation was first detected in a girl with typical Down's syndrome. She had 21-trisomy and the t(13;14) translocation. Special attention was paid to the morphology of the translocation chromosome and to the structure of the centromeres using the G-, C- and Q-banding techniques. The translocation chromosome was, however, identical in all three families and it was considered to be a result of an unequal reciprocal translocation of the affected D chromosomes; t(13;14) (q12;p12). The need of prenatal chromosome analyses in pregnancies of D/D-translocation carriers is briefly discussed.

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Zusammenfassung In drei nicht miteinander verwandten Familien wurde ein vererbtes Translokationschromosom gefunden, wobei die Familien auffallend verschiedene Typen von Fortpflanzungsstörungen aufwiesen, die möglicherweise mit dem Translokationschromosom zusammenhängen. Zwei Schwestern der ersten Familie waren Translokationsträger und hatten vier Schwangerschaften, von denen eine ein schwer mißgebildetes Kind mit einer Translokations D-Trisomie erbrachte. Die drei anderen Schwangerschaften endeten mit Fehlgeburten. In der zweiten Familie hatte die Mutter als Translokationsträgerin sieben Fehlgeburten gehabt, davon einen induzierten Abort und keine normalen Schwangerschaften. Der Fetus aus der Schwangerschaftsunterbrechung hatte unerwarteterweise eine balancierte Translokation analog zu der der Mutter. In der dritten Familie, in der die Translokation zuerst bei einem Mädchen mit typischem Down-Syndrom entdeckt worden war, konnte kein schädlicher Effekt des Translokationschromosoms nachgewiesen werden. Das Mädchen hatte eine Trisomie 21 und die t(13;14)-Translokation. Besondere Aufmerksamkeit wurde der Morphologie des Translokationschromosoms und der Struktur der Zentromeren gewidmet. Die G-, C- und Q-Bandentechnik zeigte, daß das Translokationschromosomen in allen drei Familien identisch war. Es war als Ergebnis einer ungleichen reziproken Translokation der betroffenen D-Chromosomen; t(13;14) (q12;p12) anzusehen. Die Frage der Notwendigkeit der pränatalen Chromosomendiagnostik bei Schwangerschaften von D/D-Translokationsträgern wird kurz besprochen.

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Supported by grants from the Foundation for Pediatric Research, the Sigrid Jusélius Foundation, and the National Research Council for Medical Sciences, Finland.     

The effects of coffee consumption on lipid peroxidation and plasma total homocysteine concentrations: a clinical trial

Despite extensive research, the cardiovascular effects of coffee consumption in humans remain controversial. Our aim was to investigate the excretion of coffee phenols and the effects of filtered coffee consumption on oxidative stress and plasma homocysteine (tHcy) concentration in humans. The study consisted of a multiple-dose clinical supplementation trial and a single-dose study. In the long-term trial, 43 healthy nonsmoking men optionally consumed daily either no coffee, 3 cups (450 mL), or 6 cups (900 mL) of filtered coffee for 3 weeks, while in the short-term study 35 subjects consumed a single dose of 0, 1 (150 mL), or 2 cups (300 mL) of coffee. Long-term consumption of coffee increased the urinary excretion of caffeic and ferulic acid. The change in the total excretion of phenolic acids in 3 and 6 cups groups represented 3.8 and 2.5% of the amount ingested daily. Plasma tHcy concentrations increased nonsignificantly, but the consumption of coffee had neither short-nor long-term effects on lipid peroxidation or the activity of measured antioxidant enzymes. In conclusion, the consumption of filtered coffee does not have any detectable effects on lipid peroxidation in healthy nonsmoking men. The effect of coffee consumption on tHcy concentrations needs further investigation.     

Microbial community structure and biomass in developing drinking water biofilms

Traditional techniques to study microbes, such as culturable counts, microbial biomass, or microbial activity, do not give information on the microbial ecology of drinking water systems. The aim of this study was to analyze whether the microbial community structure and biomass differed in biofilms collected from two Finnish drinking water distribution systems (A and B) receiving conventionally treated (coagulation, filtration, disinfection) surface water. Phospholipid fatty acid methyl esters (PLFAs) and lipopolysaccharide 3-hydroxy fatty acid methyl esters (LPS 3-OH-FAs) were analyzed from biofilms as a function of water residence time and development time. The microbial communities were rather stabile through the distribution systems, as water residence time had minor effects on PLFA profiles. In distribution system A, the microbial community structure in biofilms, which had developed in 6 weeks, was more complex than those grown for 23 or 40 weeks. The microbial communities between the studied distribution systems differed, possibly reflecting the differences in raw water, water purification processes, and distribution systems. The viable microbial biomass, estimated on the basis of PLFAs, increased with increasing water residence time in both distribution systems. The quantitative amount of LPS 3-OH-FAs increased with increasing development time of biofilms of distribution system B. In distribution system A, LPS 3-OH-FAs were below the detection limit.     

Population fluctuations of the wood lemming<Emphasis Type="Italic">Myopus schisticolor</Emphasis> in eastern and western Finland

Olavi Eskelinen, Pertti Sulkava and Risto Sulkava From 1982 to 2003 we studied fluctuations in populations of the wood lemmingMyopus schisticolor (Liljeborg, 1844) in the Heinävesi (eastern Finland) and Keuruu regions (western Finland) by counting field signs and dead animals in standardized field surveys. We compared the population fluctuations of lemmings to those of other voles, owls and small mustelids in these regions. The lemming population in Heinävesi fluctuated regularly in 3-year cycles and in synchrony with the field vole population. Populations of owls also fluctuated in synchrony with wood lemming and field vole populations. In the Keuruu region, oscillations in the wood lemming population were irregular, and neither lemming and vole populations nor lemming and owl populations were correlated. Although direct mechanistic evidence is lacking, specialist predators such as weasels and owls probably cause the cyclicity in the field vole and wood lemming populations in the Heinävesi area. On the other hand, scarcity of high-quality habitats, unfavourable winter weather conditions and generalist predators may prevent the development of cyclicity in the wood lemming population of Keuruu.