Influencing of 28-days alimentary deprivation and intermittent hypoxia to 3 months Wistar male rats (n = 30) bone tissue physiological remodelling is studied. We investigated 3 groups of animals, I group was control, II--food limitation mode (-40% in relation to the normal ration) and III--animals, which breathed hypoxic gas mixture with 13% O2 in nitrogen (HGM) during 4 hours in the intermittent mode (10 min of deoxygenation and 10 min of reoxygenation). It is showed significant increasing of melatonin and glicozaminoglikans levels in the rats II and III gr. serum. Activity of alkaline phosphatase in the bone tissue of III gr. rats increased and in the bone tissue and serum of II gr. rats for 1.2 and 1.4 time accordingly. We registered significant increasing of serum acid phosphatase activity in animals, which have breathed hypoxic gas mixture. The IGF-I gene expression level did not change practically in both experimental groups. We conclude, that alimentary deprivation and intermittent hypoxia have positive effects on the physiological remodelling of bone tissue.
The authors discuss the problem of selective derivation of the genetic material of spermatozoa for molecular genetic identification from mixed biological traces containing sperm on material evidence. Possible methods of improving the efficacy of differential lysis of cells present in mixed traces are analyzed. Effects of some routinely used extractants on biological substrata, most often contaminating the sperm in expert material, have been studied, and conditions for their most complete elimination from objects of investigation optimized.
The results of DNA analysis of deletion in exons 7 and 8 of SMN gene, and exon 5 of NAIP gene in 24 SMA-families from Ukraine are presented. Deletions of SMN exons 7 and 8, or 7 were found in 46 (97.9%) of 47 SMA-chromosomes. A homozygous deletion of NAIP exon 5 was demonstrated in 4 (19%) of 21 SMA-families. The authors have demonstrated that in 2 SMA patients with homozygous deletion SMN exon 7 only, the remaining SMN exon 8 was a part of a chimeric CBCD41/SMN gene.
[Analysis of two segments of biallelic polymorphism at the tumor necrosis factor in patients with multiple sclerosis from the Russian population: connection with NcoI-PDGF in the first intron of the lymphotoxin alpha gene].
The association between apolipoprotein E phenotype and the presence of 2 electrophoretic populations of very low density (VLDL) lipoproteins from human sera, double pre-beta(VLDL)lipoproteinemia (DPBL), was studied in 2 groups of subjects, one from Italy and one from Finland. In both populations the prevalence of DPBL was significantly higher in subjects with E4/4 and E4/3 phenotypes than in the other phenotypes not containing the E4 isoprotein. This finding suggests that the presence of a structural variant of the apo E protein, the isoprotein E4, may be causally related to the appearance of DPBL phenomenon.
The present study shows that the C4 system as investigated by high voltage agarose gel electrophoresis is highly polymorphic. In a series of unrelated Norwegian adults, where C4 types have been ascertained through segregation in families, six different haplotypes have been found to occur with a frequency exceeding 1%. The genotype frequencies in the population fit expected Hardy-Weinberg distribution. In family material comprising 89 matings with 327 children the distribution of offspring is as expected according to autosomal codominant inheritance of haplotypes.
Serologically verified indigenous Q fever is described in a 52-y-old male, who presented with persistent fever, muscle and joint pain, headache and non-purulent cough. Institution of doxycycline resulted in prompt recovery. Coxiella burnetii was isolated from mouldy hay in a barn. The strain differs from previously isolated ones in Sweden.
Concentrations of extracellular DNA and RNA in the blood of healthy donors and patients with malignant and nonmalignant breast tumors were investigated. Cell-surface-bound extracellular DNA and RNA were detached by PBS-EDTA treatment or mild trypsin treatment of erythrocytes and leukocytes. In healthy donors, almost all extracellular nucleic acids (98%) are bound at the surface of blood cells. In the blood of cancer patients, extracellular nucleic acids were found in plasma and not at the cell surface. In patients with nonmalignant breast tumors, extracellular nucleic acids were found both at the surface of blood cells and in plasma. In healthy donors, the cell-surface-bound DNA is represented by 20-kbp DNA fragments and smaller fragments that varied in amounts in different fractions.
Fifty six Danish streptomycin (Sm) resistant isolates of Salmonella enterica serotype Typhimurium from pigs (n=34), calves (n=3) and humans (n=19) were characterised with respect to co-resistances (14 drugs), transferability of Sm-resistance by conjugation, genetic determinants encoding Sm-resistance and diversity with respect to localisation of genes in the genome and DNA-sequences. Forty-six strains carried resistance(s) other than Sm-resistance. Nineteen different co-resistance patterns were observed and tetracycline was the most commonly observed resistance in these patterns. In 22 of the strains, Sm-resistance was transferred by conjugation. Eleven strains contained the gene aadA only, six strains contained aadA+strA+strB, and 35 strains contained strA+strB. Partial sequences of aadA were obtained from four strains. Three strains showed identical sequences to a published aadA sequence from the transposon Tn7, and in one strain the sequence showed one synonymous substitution compared to this sequence. Partial sequences were obtained of strA and strB in seven strains. The sequence of strB was identical to the published sequence of the plasmid RSF1010 in all strains. All seven sequences of strA were identical and differed from the sequence of strA in RSF1010 by two non-synonymous substitutions.
Familial LCAT deficiency (FLD) is a disease characterized by a defect in the enzyme lecithin:cholesterol acyltransferase (LCAT) resulting in low HDL-C, premature corneal opacities, anemia as well as proteinuria and renal failure. We have identified the first French Canadian kindred with familial LCAT deficiency. Two brothers, presenting classical signs of FLD, were shown to be homozygous for a novel LCAT mutation. This c.102delG mutation occurs at the codon for His35 and causes a frameshift that stops transcription at codon 61 abolishing LCAT enzymatic activity both in vivo and in vitro. It has a dramatic effect on the lipoprotein profile, with an important reduction of HDL-C in both heterozygotes (22%) and homozygotes (88%) and a significant decrease in LDL-C in heterozygotes (35%) as well as homozygotes (58%). Furthermore, the lipoprotein profile differs markedly between the two affected brothers who had different APOE genotypes. We propose that APOE could be an important modifier gene explaining heterogeneity in lipoprotein profiles observed among FLD patients. Our results suggest that a LCAT-/- genotype associated with an APOE epsilon2 allele could be a novel mechanism leading to dysbetalipoproteinemia.