Analysis of association of Col1a1 gene alleles with the development of osteoporosis

Allele frequencies of the G-->T polymorphism at the regulatory region of the Collal gene in the population of the northwestern Russia (control group) and in osteoporotic patients were estimated by the RFLP method based on PCR-mediated site-directed mutagenesis. Three patient groups with radiologically confirmed osteoporosis were examined. Group 1 consisted of 64 patients with severe osteoporosis complicated by fractures (SO); group 2 included 15 children with idiopathic osteoporosis (IO); group 3 consisted of 98 women with postmenopausal osteoporosis developed at the background of estradiol-deficiency state (PMO). The frequency of functionally defective allele s in the control group was 16.7%. It was statistically different from that in the SO patients (48.4%) (P < 0.01) and in the IO children (40%) (P < 0.01). The frequency of allele s in the PMO patients constituted 23.0% and it was similar to that in the control group (P > 0.05). Analysis of the Collal alleles provides early detection of the individuals with hereditary predisposition to osteoporosis and prophylaxis of the disease at the presymptomatic stage.     

Hemispheric lateralization of visuo-spatial function in man

Two parts of a geometrical figure are consecutively presented to healthy adult subjects in the left and right visual fields; the subjects have to compare them mentally and to decide whether these parts form a standard figure or not. Correctness of the reaction is controlled by a computer which lights up on the screen the words "good" or "error". The number of correct decisions of this visual-spatial task does not depend on the hemisphere to which information is addressed. The reaction time is substantially shorter if the information comes "directly" to the right hemisphere. Due to better training in the left hemisphere interhemispheric difference in reaction time gradually disappears in repeated tests. Training to mental "constructing" takes place only in the tests following positive feedback stimulus. Analysis of amplitude-temporal parameters of P300 wave shows that at correct decision of the visual-spatial task the level of activation in the right hemisphere is higher than in the left one.     

Analysis of the association of HLA-DQ1 alleles with mutation of the 21-hydroxylase gene in patients with congenital adrenal hyperplasia

In 96 patients with congenital adrenal hyperplasia (CAH) and 50 healthy donors from northwestern Russia the distribution of the HLA-DQA1 alleles and the mutation spectrum and frequency at the CYP21B gene were examined. In the patients with nonclassical (NC) CAH, the distribution of the HLA-DQA1 polymorphic alleles was similar to that in the population sample. In the patients with the salt-wasting form of the disease a statistically significant decrease of the *0401 or *501 major allele frequency was observed. The prevalence of certain HLA-DQA1 genotypes, namely, HLA5, HLA3, and HLA4, was observed in the patients with the NC, salt-wasting (SW), and simple virilizing CAH, respectively. Each clinical group was characterized by a specific spectrum of clinically valuable mutations. An association between the CYP21B mutations most frequently found in case of SW and SV CAH (delB, I2splice, and I172N) and certain HLA-DQA1 alleles was demonstrated. The necessity of more precise clinical diagnostics of the NC CAH cases along with detailed examination of this group for determination of the major mutations typical of the NC CAH cases from northwestern Russia is discussed.     

Variation in Lengths of Introns and Exons in Genes of the Arabidopsis thaliana Nuclear Genome

In the nuclear genes of Arabidopsis thaliana, the length of introns and exons was shown to vary depending on the number of introns. With increasing number of introns per gene, the proportion of introns composed of 80–100 nucleotides increases whereas the proportion of introns with 400-nucleotide length decreases. Similar changes in exon length in genes result in predominance of exons of 60–120-nucleotides in length.     

Stimulation of the immune response to immobilized antigen in an in vitro system with B-activin

The influence of B-activin, the preparation of immunomodulating myelopeptides, on the level of antibody formation after the primary immunization of mouse splenocyte cultures with immobilized antigens has been studied. The treatment of the cells with B-activin on the third day of their cultivation in the presence of peroxidase immobilized on polystyrene or protein M1 of influenza virus has been found to increase antigen-specific antibody formation by several times, while having practically no effect on the total level of IgG secretion. The stable level of the stimulation of antibody formation and the possibility of its quantitative evaluation in the enzyme-linked immunosorbent assay makes this immune response inducing system a convenient model for testing the biological activity of myelopeptides and other immunostimulators.     

Anthropogenic scarring of western gray whales (Eschrichtius robustus)

Western gray whales ( Eschrichtius robustus ) are critically endangered and anthropogenic threats, such as entanglement in fishing gear and collisions with vessels, may be acting to limit recovery of the population. Thus, examining the magnitude of such anthropogenic interactions using a scar-based approach is warranted. A multi-year (1995–2005) photo-identification study of western gray whales on their feeding ground off northeastern Sakhalin Island, Russia, has resulted in a large data set of digital and film images of 150 individuals. These images were reviewed and scored for anthropogenic scarring by recording the presence of visible scars resulting from fishing gear entanglement and vessel collisions in 21 defined body regions. In total, 20.0% ( n = 30) of whales identified during the study period had detectable anthropogenic scarring, with 18.7% ( n = 28) determined to have been previously entangled in fishing gear at least once and 2.0% ( n = 3) to have survived at least one vessel collision. These estimates are likely to be conservative given the nature of the photo-identification data set, but indicate that male and female western gray whales are subject to anthropogenic interactions. Future studies designed to systematically estimate the frequency and rates of anthropogenic events are needed and would have direct conservation and management implications.     

The Mutation Spectrum of the CFTR Gene in Cystic Fibrosis Patients from Bashkortostan

Mutations of CFTR were studied in patients with cystic fibrosis (CF) from Bashkortostan. In total, 15 mutations were observed and 51% of all mutant alleles identified. The most diagnostically significant mutations were delF508 (33.8%), 394delTT (3.52%), CFTRdele2,3(21kb) (1.41%), R334W (1.41%), 3849 + 10kbC T (1.41%), and N1303K (1.41%). Mutations G542X, 2184insA, S1196X, and W1282X were each found in less than 1% patients. Five new mutations and two neutral substitutions were revealed. These were I488M (exon 10), 1811 + 12A C (intron 11), T663S (exon 13), I1226R (exon 19), 4005 + 9A C (intron 20), 2097A C (A655A, exon 13), and 3996G C (V1288V, exon 20). Bashkortostan was shown to differ in the CFTR mutation spectrum from other regions of Russia. The results will allow direct DNA diagnostics of CF in far more families. Molecular screening of probands" relatives will contribute to identification and medical genetic counseling of heterozygous carriers, which is essential for CF prevention.     

Variation in lengths of introns and exons in genes of the Arabidopsis thaliana nuclear genome

In the nuclear genes of Arabidopsis thaliana, the length of introns and exons was shown to vary depending on the number of introns. With increasing number of introns per gene, the proportion of introns composed of 80-100 nucleotides increases whereas the proportion of introns with 400-nucleotide length decreases. Similar changes in exon length in genes result in predominance of exons of 60-120-nucleotides in length.     

Comamonas testosteroni strain TI as a potential base for a microbial sensor detecting surfactants

Strain Comamonas testosteroni TI, capable of degrading the nonionic surfactant (NIS) nonylphenolethoxylate (OP-10), was used for constructing a pilot cellular biosensor. The lower NIS detection limit for the biosensor was 0.25 mg/l. We studied the substrate specificity of the biosensor with respect to a wide range of organic compounds: surfactants, polyaromatic compounds (PAC), carbohydrates, alcohols, etc. It was shown that the biosensor based on Comamonas testosteroni TI did not respond to glucose, which was an advantage over the formerly described biosensor based on Pseudomonas rathonis T. The amplitude of the sensor response remained stable for 10 days.