Rapid molecular prenatal diagnosis of ataxia-telangiectasia by direct mutational analysis

Mutations of the ataxia-telangiectasia-mutated (ATM) gene are responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T). This study reports the first A-T prenatal diagnosis performed in Spain by direct molecular analysis. The pregnant woman had a previous child suffering from A-T due to a deletion in the ATM gene. The ATM coding region was sequenced in the A-T patient and her parents. Then, a specific polymerase chain reaction (PCR) to detect the deletion was performed for prenatal diagnosis. Additionally, polymorphic HLA loci were examined in order to exclude the possible contamination by maternal DNA. In this family of Gypsy origin, we carried out a rapid molecular diagnosis of A-T. Then, a prenatal diagnosis was carried out, identifying the deletion in the fetal DNA. Additionally, we performed a population study in unrelated Spanish Gypsies and in unrelated controls, showing that the deletion described could be a hotspot in the Spanish Gypsy population. The size of the coding region and the genomic structure, together with the absence of hotspots, make the mutation screening of the ATM gene difficult. The ability to identify ATM mutations provides a tool that can be applied in confirmatory diagnosis, genetic counselling, carrier prediction and prenatal diagnosis. Copyright © 2007 John Wiley & Sons, Ltd.     

Movements between coral colonies in Trapezia ferruginea (Crustacea: Brachyura), an obligate symbiont of scleractinian corals

Trapezia ferruginea appears to depend entirely on its coral host (Pocillopora spp.) for shelter and food. Field and laboratory experiments have shown that the brightly colored crabs move between colonies at night. Analysis of movements in crabs randomly distributed among randomized Pocillopora damicornis colonies under laboratory conditions showed that after 6 days there was a significant increase in the number of heterosexual pairs (P<0.001) and a significant correlation between the number of crabs and the size of colonies (P=0.003), as well as between the size of crabs and the size of colonies (P=0.020) — conditions which are also observed in the field. No such correlations were obtained (P>0.05) in a similar experiment where very intense predation by carnivorous fishes was present. This host selection by adults appears to be elicited by the lack of a suitable partner and the inadequate size of their established territory in the colony.     

Pressurised liquid-liquid extraction. An approach to the removal of inorganic non-metal species from used industrial oils

Modified pressurised hot water is used for the development of a high pressure liquid-liquid extraction method for the decontamination of used industrial oils from inorganic non-metal species (chlorine, fluorine and sulphur). The oils were subjected to dynamic extraction with water modified with 5% v/v HNO3 at 200 degrees C as extractant. Under these working conditions the analytes were transferred to the aqueous phase. Spontaneous separation of the two immiscible liquid phases (the used oil and extract) takes place in the collection flask after extraction. The treated and untreated oil samples were oxidised and the chloride, fluoride and sulphate thus formed were determined by ion-chromatography. The method was applied to four oil samples from different locations in Spain. A residence time of approximately =10 min provided oil samples from which 88.3%, 89.4% and 89.4% of chloride, fluoride and sulphate, respectively, have been removed with respect to the initial concentration of each analyte in the oil. The repeatability, expressed as relative standard deviation (RSD), was of 11.9%, 13.7% and 7.2% for Cl(-), F(-) and SO4(2-), respectively; whilst the within-laboratory reproducibility yielded RSDs of 6.2%, 7.9% and 6.2% for the same analytes. The proposed approach has proved to be efficient, simple, easily transferable to industrial scale, cheap, fast and environmentally friendly.     

Determination of chlorimuron and metsulfuron residues in two soils of Argentina using a rapid seed-bioassay

The presence of chlorimuron ethyl and metsulfuron methyl in two soils was determined by a modified petri dish bioassay. Pregerminated seeds of maize and sunflower were placed in petri dishes containing 85 to 100 g of treated soil. Radicle root lengths were measured after 24 h. Chlorimuron had no effect on maize on the Balcarce soil, however 0.007 microg g(-1) decreased sunflower root length. Chlorimuron decreased maize and sunflower root length regardless application dose on the San Cayetano soil. Metsulfuron decreased maize root length at 0.04 microg g(-1) and sunflower at 0.021 microg g(-1) on the Balcarce soil. On the San Cayetano soil metsulfuron at 0.001 microg g(-1) decreased maize and sunflower root length. The phytotoxicity of chlorimuron and metsulfuron changed according to soil type and dose. Maize and sunflower were 1.3-1.5 and 1.3-1.8 times respectively more sensitive to chlorimuron on the San Cayetano soil than on the Balcarce soil. In the case of metsulfuron, maize was similarly sensitive on both soils but sunflower was 1.7-2.0 times more sensitive on the San Cayetano soil than on the Balcarce soil. Phytotoxicity increased as organic matter (OM) content decreased and/or when the soil pH and concentration increased.     

Mitochondrial and microsatellite assessment of population structure of South American sea lion (<Emphasis Type="Italic">Otaria flavescens</Emphasis>) in the Southwestern Atlantic Ocean

Several major breeding areas have been defined for the South American sea lion (Otaria flavescens) along the Atlantic Ocean including the Uruguayan and Patagonian coasts. Together with a documented and severe reduction in population sizes caused by commercial hunting in the last century, these areas show opposite population trends. While Patagonian populations are recovering since hunting ceased, Uruguayan populations are declining. In this context, population genetic structure and genetic diversity were studied for the first time with both nuclear (microsatellites) and mitochondrial (control region) markers together. Alternative scenarios were found for both markers. While mitochondrial marker showed geographically structured populations, the nuclear loci showed a lack of geographical structure. These opposite patterns in genetic structure could be explained by female phylopatry and high male dispersion. The reduction in population size caused by commercial hunting did not leave a detectable footprint of bottleneck at the genetic level.     

An island biogeography approach for understanding changes in compositional similarity at present scenario of biotic homogenization

Local extinction of native species and colonization of non-native species are commonly invoked as responsible for changes in species similarity among biotas of different regions. In this study we used a model of species similarity between islands to assess the emergent, and unexplored, effects of changes in colonization by native species, extinction of non-native species, and propagule pressure on species similarity among insular communities. The model predicts that extinction probability of endemic species has a positive but asymptotic effect on species similarity, which is exacerbated by increasing colonization and reducing extinction of non-native species. Species similarity tends to increase with increasing colonization probability by non-native species, however this effect may be reduced, or even reverted, when the islands are exposed to an elevated number of non-native species that are prone to extinction, high levels of endemic species loss, and an initially large number of native species shared between islands. Species similarity was positively affected by the propagule pressure rate of non-native species only when their colonization and extinction probabilities were large and small enough, respectively. A negative effect of propagule pressure rate can be caused by an increase in the pool size of non-native species, which involves the introduction of different species into different islands, promoting biotic differentiation between islands. Our results indicate that the interactions between colonization, extinction and species pool lead to nonlinear responses and unexpected scenarios of biotic change. In order to validate model predictions, future research programs should focus on understanding the dynamics on such complex meta-communities where coexist native, non-native and endemic species.     

Mass balance in the monitoring of pollutants in tidal rivers of the Guanabara Bay, Rio de Janeiro, Brazil

This study addressed the identification and monitoring of pollution sources of terrestrial origin in rivers (domestic sewage and industrial effluents) and critical fluvial segments in highly polluted environments under tidal influence (mixing marine and continental sources) from Guanabara Bay Basin, Rio de Janeiro, Brazil. The mass balance of contaminants was determined in conditions of continuous flow (low tide) during dry season (lower dilution capability). The results allowed the evaluation of the potential of contaminant mass generation by the different river segments and the estimation of their natural and anthropogenic components. The water quality of Igua?ú and Sarapuí Rivers were evaluated for metals and biochemical oxygen demand. The method gave an excellent response, including the possibility of sources identification and contaminated river segments ranking. The approach also offers fast execution and data interpretation, being highly efficient.     

Determining subsampling effort for the development of a rapid bioassessment protocol using benthic macroinvertebrates in streams of Southeastern Brazil

The purpose of this study was to establish a subsampling procedure for benthic macroinvertebrates to aid in the development of a multimetric index to assess the biological condition of streams. Data from six streams that are considered minimally impaired were used. Subsampling was done using a device divided into 24 quadrats. The sediment from each quadrat was sorted, and all organisms were removed and identified. Richness metrics were the most affected by subsample size. Relative-abundance metrics were the most stable, proving that the sample was well distributed throughout the tray and abundance proportions were maintained. The results showed that the macroinvertebrate assemblage present in the six quadrats was similar to that present in the full sample. These analyses indicated that six quadrats, randomly designated, with a minimum of 200 collected specimens could be used in place of the full sample. In routine water management, managing time and costs are a major challenge; therefore, this type of simplification is absolutely necessary to ensure that a biomonitoring tool is useful for practical applications.