Progressive Myoclonus Epilepsy EPM1 Locus Maps to a 175-kb Interval in Distal 21q

The EPM1 locus responsible for progressive myoclonus epilepsy of Unverricht-Lundborg type (MIM 254800) maps to a region in distal chromosome 21q where positional cloning has been hampered by the lack of physical and genetic mapping resolution. We here report the use of a recently constituted contig of cosmid, BAC, and P1 clones that allowed new polymorphic markers to be positioned. These were typed in 53 unrelated disease families from an isolated Finnish population in which a putative single ancestral EPM1 mutation has segregated for an estimated 100 generations. By thus exploiting historical recombinations in haplotype analysis, EPM1 could be assigned to the ~175-kb interval between the markers D21S2040 and D21S1259.     

The trophic state of Lake Ladoga as indicated by late summer phytoplankton

As a part of the joint Russian-Finnish evaluation of human impact on Lake Ladoga, we studied the phytoplankton of the lake in order to find biological indicators for eutrophication. A second aim of the investigation was intercalibration of sampling and phytoplankton counting techniques between the Russian and Finnish laboratories. Phytoplankton samples were collected from 27 sampling stations in the lake and from the rivers Volkhov and Neva in 9–13 August 1993. In surface water samples the phytoplankton fresh weight biomass varied in the range 218–3575 mg m^–33. Highest biomass values were encountered in Sortavala Bay, and lowest ones in the western central part of the lake. Phytoplankton species composition varied considerably in the lake; blue-green and green algae predominated near-shore areas and Cryptophyceae in the offshore stations. Canonical correspondance analysis revealed close grouping of eutrophy indicating communities, dominated mainly by greens and blue-greens, in the most nutrient-rich parts of Lake Ladoga, the Volkhov and Svir Bays. Samples from the vicinity of the inflows of Vuoksi and Burnaya Rivers and off Pitkaranta formed a separate group, dominated by diatoms, most of which were typical to mesotrophic or eutrophy lakes. As judged by phytoplankton biomass values and chlorophyll a concentrations, Lake Ladoga may generally be classified as mesotrophic. Eutrophicated areas are found in the northern archipelago of the lake and in the areas influenced by large rivers.     

Distribution and ecology of freshwater red algae (Rhodophyta) in some central Finnish rivers

Macroscopic red algae were sampled simultaneously with diatom sampling from 60 locations in central Finnish rivers and at some rivers in south coast rivers in the summers 1986, 1993 and 1994. In those samples 17 red algal taxa from 5 genera ( Audouinella (3). Batrachospermum (7). Lemanea (4), Sirodotia (2) and Tuomeya (1)) were identified. Some of these taxa were new to Finland and two were new for Europe.     

Refined Mapping of the Usher Syndrome Type III Locus on Chromosome 3, Exclusion of Candidate Genes, and Identification of the Putative Mouse Homologous Region

A locus for Usher syndrome type III (USH3;MIM No. 276902) was recently assigned to a 5-cM region on chromosome 3q. We constructed a yeast artificial chromosome contig that allowed us to position novel polymorphisms in the region. These were typed in a total of 32 pedigrees from a geographically isolated Finnish founder population in which a putative single ancestralUSH3mutation segregates. A multipoint linkage analysis assignedUSH3to a 4-cM region betweenD3S1555and a novel markerD3S3625.By analysis of linkage disequilibrium and historical recombinations in 77USH3chromosomes, the location of the Finnish USH3 mutation could be narrowed to an approximately 1-cM interval between the markersD3S1299andD3S3625.A gene for profilin-2 (PFN2) was mapped in the vicinity and excluded as a candidate for USH3 by sequencing. The putative mouse homolog ofPFN2was mapped to mouse chromosome 3, thus suggesting a localization for the mouse homolog ofUSH3.     

Distribution of taurine in the rat cerebellum and insect brain: application of a new antiserum against carbodiimide-conjugated taurine

Summary The production, specificity and application of an antiserum against taurine conjugated to succinylated ovalbumin by means of 1-ethyl-3(3-dimethylaminopropyl)-carbodiimide is reported. The antiserum was produced in rabbits. The carbodiimide was used also as a tissue fixative. The development of the antibody titre was followed with dot-blot tests on nitrocellulose filters using different amino acid conjugates and with immunohistochemical reaction in the rat and insect brain. Blocking controls were also used. Taurine antiserum, sufficiently specific and sensitive, developed after the fourth booster injection, after which the antiserum was characterized. In the insect brain, intense taurine-like immunoreactivity was observed in the photoreceptors, in the Kenyon cells and the neuropile of the mushroom bodies, in the lower part of the central body and in the antennal lobes. In the rat carebellum, intense taurine-like immunoreactivity was seen in the Purkinje cells. Immunoreaction was seen also in small cells most probably corresponding to the basket cells. The use of the carbodiimide in the production of antisera against taurine provides a parallel method for comparison of the distribution of taurine-like immunoreactivity obtained with antisera made against conjugates prepared with aldehydes.     

The use of fallout 137Cs and 239,240Pu for dating of lake sediments

The distribution of ¹³⁷Cs and ^239,240Pu in sediment core samples of the Finnish lakes Laukunlampi, Lovojärvi and Pääjärvi were determined. The sediment samples were collected using dry ice and liquid nitrogen freezing methods. The sediments of these lakes are annually laminated. A clear maximum concentration of ¹³⁷Cs and ^239,240Pu was found in sediment layers formed during 1962–1964, the years of maximum fallout, and the middle of the 1950's can be estimated from the ¹³⁷Cs and ^239,240Pu profiles. The highest concentrations, 11 500 and 820 pCi kg^–1 dry wt for ¹³⁷Cs and ^239,240Pu, respectively, were found in the sediment of Laukunlampi. The vertical distribution was similar for ¹³⁷Cs and ^239,240Pu in the lakes investigated. A slight migration of ^239,240Pu and ¹³⁷Cs was found and the migration of ¹³⁷Cs seems to be higher than that of ^239,240Pu. The advantages of ¹³⁷Cs dating method are rapidity and simplicity. ^239,240Pu is preferable when the sample size is small. The agreement found between ¹³⁷Cs and ^239,240Pu dates and the annual laminae show that these fallout radio isotopes can be used for dating sediments formed during the past 25 years.     

Periphyton growth and diatom community structure in a cooling water pond

Periphyton (Aufwuchs) accumulation was measured on artificial substrates in a pond in central Finland which receives warm cooling-water effluent from a power plant. The growth of periphyton was generally more rapid on the substrates during the first two weeks of colonization near the inflow of the warm water effluent than in the middle of the pond. The maximum accumulation of periphyton was in spring and autumn (dry weight maximum at warm effluent was in spring 3.5 mg DW cm⁻²,2.65 mg AFDW cm⁻²; chlorophyll a maximum 3.96 μg cm⁻² was found in autumn at pond-middle station). During mid-winter months the growth was strongly limited by solar radiation, but the growth was also slow at both stations in the summer months, when the power plant was out of operation. The periphyton accumulation rate was fastest near the water surface and decreased rapidly with increasing depth. A total of 167 diatom species were found in periphyton samples. However, most species were rare; many of the dominants were common to both plankton and periphyton. Species similarity analyses (Jaccard's similarity) between 10 different diatom communities (including periphyton from 9 different types of substrates and phytoplankton) indicated low similarity index values although differences between communities were not significant.     

Seasonal succession of phytoplankton in an ice-free pond warmed by a thermal power plant

In a pond receiving warmed cooling waters from a thermal power plant, the physical and chemical properties of the water, phytoplankton, periphyton and zooplankton were monitored on a weekly sampling schedule. In winter the phytoplankton growth was limited by poor light conditions. In mid-February a rapid phytoplankton growth started, simultaneously with increasing light energy, high nutrient concentrations and small herbivorous zooplankton populations. The increase of phytoplankton biomass was stopped by lack of free nutrients and silica at the end of March. From May until August the phytoplankton standing crop was mainly regulated by herbivorous zooplankton. The autumnal maximum of phytoplankton occurred with decreasing zooplankton populations, increasing nutrient concentrations, a turbulence favourable for diatoms and high water temperature.     

A deletion in chromosome 22 can cause digeorge syndrome

Summary An association between DiGeorge's syndrome and an unbalanced chromosomal rearrangement leading to trisomy 20pter20q11 and monosomy 22pter22q11 was found in four individuals belonging to one family. These and other data from the literature are interpreted to suggest that DiGeorge's syndrome can be caused by deletion of a gene located in chromosome 22, probably in band 22q11.