[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).

Drift of tetM determinant in urogenital microbiocenosis containing mycoplasmas during treatment with a tetracycline antibiotic.

We studied the correlation between genetic transfer of tetM determinant in Tn916 conjugative transposon by urogenital mycoplasmas (Mycoplasma hominis and Ureaplasma urealyticum) and changes in the bacterial repertoire during treatment with a tetracycline antibiotic. Basic conditions favoring the nonspecific transfer of tetM determinant into mollicute cells are determined and the allele polymorphism of tetM determinant in clinical strains of M. hominis and U.

Effect of megestrol caproate on the reproductive function of laboratory animals.

In vivo experiments on rats and rabbits showed that megestrol caproate, a 17-alpha-hydroxyprogesterone derivative exhibits 10-fold higher gestagenic activity compared to progesterone and possesses no androgenic, anabolic, and estrogenic activities.

Glutathione-dependent system of antioxidant defense in the placenta in preterm delivery.

Components of the antioxidant defense system in placental tissues were studied in women with normal pregnancy and full-term delivery and women with spontaneous abortions at 28-36 weeks. In women with spontaneous abortions glutathione peroxidase activity in placental tissues increased and the content of SH compounds decreased, which led to exhaustion of the antioxidant defense system. Glutathione-S-transferase activity also decreased, which attests to impaired detoxifying function of the placenta.

[Therapeutic efficacy of novel 17alpha-hydroxyprogesterone derivatives in experimental preterm labor].

The ability of a series of new 17 alpha-Hydroxyprogesteron derivatives (acetomepregnol, AMOL phenyl propyoate, butagest) in preventing the prostaglandin-induced preterm labor was experimentally studied in mice. It was found that all the synthetic gestagens studied, especially butagest, maintained pregnancy in all test animals on the model of enzaprost F induced abortion. The proposed progestogens can be used to prevent abortion in pregnancies in cases of risk from diseases connected with excess prostaglandin secretion.

[Disruption of circadian rhythms of biogenic amines in rat hypothalamus upon administration of 1,2-dimethylhydrazine].

Levels of norepinephrine (NE), dopamine (DA) and the main metabolite of serotonin 5-hydroxyindoleacetic acid (5-HIAA) have been measured in the suprachiasmatic nuclei (SCN), preoptic area (PA), and median eminence (ME) of hypothalamus of rats after sole subcutaneous injection of 1,2-dimethylhydrazine (SDMH). Circadian changes of DA in all the brain structures under study as well as of NE in PA were observed in the control group, their levels in the mornings being higher than in the evenings; a circadian change of 5-HIAA in SCN had an opposite tendency. Both the evening (11 p.

Effect of chronic inhalation of toluene and dioxane on activity of free radical processes in rat ovaries and brain.

The effects of toluene and dioxane inhalations on the intensity of free radical oxidation in rat ovaries and brain cortex were studied. Both toxins in a dose 10-fold surpassing the maximum permissible concentration increased activity of glutathione peroxidase in brain tissue; moreover, toluene increased chemiluminescence intensity, which attested to activation of free radical processes. In ovarian tissue toluene increased activities of glutathione peroxidase and catalase and the intensity of lipid peroxidation.

[Analysis of deletional damage in SMN1, SMN2, and NAIP genes in patients with spinal muscular atrophy in the northwestern region of Russia].

Polymerase chain reaction with subsequent SSCP (single-strand DNA conformational polymorphism) and restriction (BselI restriction endonuclease) analyses were used to type the DNA samples of affected individuals and their relatives from 23 Russian families with high risk of spinal muscular atrophy (SMA) residing in the northwestern region of Russia. Deletions of exon 7 of the SMN gene were found in 96% of the individuals examined. The frequency of homozygous deletion of exons 7 and 8 of the SMN1 gene was 65%.

[Current state and prospects for gene therapy of Duchenne muscular dystrophy in the world and in Russia].

Failure of drug therapy of Duchenne muscular dystrophy (DMD) stimulated intense search for adequate methods of gene therapy (GT) which would ensure effective delivery of the dystrophin (D) gene, its long-term persistence in transfected cells, and its expression in muscle fibers. The main results of the experimental GT of DMD with the use of viral and nonviral delivery of the D gene into muscles of biological models are discussed. Delivery of a mini-gene of D with a specific muscle promoter using a modified adenoassociated virus is currently the most promising method, which will soon be available for clinical trials.

[Features of chromosome segregation in unfertilized human oocytes].

Mechanisms of abnormal chromosomal segregation in female meiosis and factors exerting influence on unfertilized human oocytes have been analysed in vitro. The differences in results of cytological studies on the rate of aneuploidy have been reviewed. The advanced maternal age is primarily associated with disturbances in oocyte meiosis.

[Effect of concentration of spermatozoids on fertilization of oocytes and human embryo development in vitro].

The correlation between sperm insemination concentrations, rates of normal and abnormal fertilization and embryo development was investigated. For male factor patients fertilization rates are significantly lower than for female factor. We have found the increased fertilization rate for male factor, if insemination concentration increased from 10 x 10(4) to 15 x 10(4) per 1 ml.

[Relationship between the frequency of cultured oocytes fertilization and morphology of human sperm].

The study has evaluated 304 cases under of vitro fertilization. Positive correlations were shown of semen parameters and fertilization rate. The individual spectrum of different sperm morphological types was shown to be constant.

[Population and family studies of CAG repeats in the IT-15 gene].

A simple and effective method for typing of CAG repeats in the IT-15 gene has been suggested. This method was applied for examination of the CAG allele distribution in Huntington's disease (HD) patients in five different populations from the Commonwealth of Independent States. A total of 21 normal alleles with the sizes ranging from 9 to 32 triplet repeat units were revealed.

[Genetic factors in predisposition to bronchial asthma].

The ratio between the normal (+) and null (0) alleles of the genes encoding glutatione S-transferases M1 (GSTM1) and T1 (GSTT1) were studied in normal individuals from northwestern Russia (control group) and in patients with bronchial asthma (BA). The frequency of the GSTM1 0/0 genotype in the population sample was statistically significantly lower (37.8%) than in the BA patients (82.

[Effect of age on frequency of heteroploidy in human oocytes].

Human oocytes that failed to be fertilized in vitro were fixed for cytogenetic analysis. Successful karyotyping was achieved in 157 oocytes. Among women aged 23-35 years, 34% of oocytes were aneuploid and 8.

[Effects of verapamil and gynipral on the uterine contractile activity in rats].

Verapamil and gynipral administered to pregnant rats in doses on a clinical level suppress the uterine contractions, which is manifested by a decrease in the amplitude and frequency of the biopotential. The joint administration of gynipral and verapamil (in half doses) resulted in a pronounced tocolytic effect.

[Correlation of results of immunocytochemical, electrophysiologic, and molecular studies in patients with cystic fibrosis].

In 13 cystic fibrosis (CF) patients of 5 to 23 years of age with a known mutation spectrum of gene CFTR, sweat chloride values and nasal-potential differences (NPD) were measured and localization characteristics of the protein product of gene CFTR in the cells of nasal epithelium were studied. Sweat Chloride values were normal or boundary (24 to 62 mM/l) in six CF patients. In seven CF patients, these values were significantly above the estimates for the control group.

[Analysis of the spectra of mutational damage of the 21-hydroxylase gene in patients with adreno-genital syndrome].

The spectrum of mutations in the steroid 21-hydroxylase gene (CYP21B) and the frequency of 11 mutations among 66 patients with different forms of congenital adrenal hyperplasia (CAH) were analyzed by means of PCR amplification. Each of the CAH forms was characterized by specific spectrum of diagnostically important mutations. The salt-losing (SL) form of the disease was most frequently associated with gene deletion (39%) and the 668-13C-G mutation in the second intron (23.

[Effect of instenon on the uterine contractile activity].

The effect of instenon upon the uterine contractile activity was studied in pregnant rats. The drug administration at a dose resulted in significant suppression of the myometrium contractility. The effect was not decreased when instenon was injected against the background of oxytocin.

Cytokines and placental macrophages in regulation of birth activity.

The article reviews present notions on functional activity of cytokines of the fetoplacental complex. Particular emphasis is placed on the role of these molecules in the regulation of gestation processes and in pregnancy incompetence. The mechanism of the involvement of placental macrophages and their products in gestation and delivery is discussed.

[Comparative analysis of allele polymorphism of three short tandem repeats in the Russian, Uzbek and Georgian populations].

The allele polymorphism of the AGC short tandem repeat (STR) of exon 1 of the androgen receptor (AR) gene located in Xq11-12, ATCT STR of intron 40 of the von Willebrand factor (vWF) gene located in chromosome 12p12, and AGAT STR of an anonymous DNA sequence (STRX1) from the short arm of the X chromosome was analyzed in the Georgian, Uzbek, and Russian populations. Polymerase chain reaction (PCR) with DNA of unrelated persons revealed 14 AR, 7 vWF, and 7 STRX1 alleles in Georgians; 14, 8, and 6 alleles, respectively, in Uzbeks; and 16, 8, and 9 alleles, respectively, in Russians. The heterozygosity at these STR was 0.

[Genetic factors of predisposition to endometriosis and response to its treatment].

The relative frequencies of the normal (+) and null (0) alleles of the glutathione-S-transferase M1 (GSTM1) gene, as well as those of the rapid (R) and slow (S) forms of N-acetyl transferase 2 (NAT-2), were studied in the Russian and French populations and in endometriosis (EM) patients. In the total Russian and French populations, the proportions of homozygotes for deletion in gene GstM1 (0/0) were 42.2 and 45.

[Features of transfection and expression of cDNA for the human dystrophin gene, delivered into muscles of mdx mice using MF-2 synthetic microspheres].

The number of dystrophin-positive myofibers (DPM), that appeared in different skeletal muscles of mdx mice after a single injection of synthetic microspheres containing the full-length human dystrophin cDNA within the pHSADy expressing vector into femoral quadriceps muscle, was examined on cryostat sections. Injection of 25 micrograms cDNA resulted in the occurrence of 1, 2.4, 5.

[Expression of the human dystrophin gene in mdx mouse muscle fibers after transfection using liposomes and synthetic oligopeptides].

The number of dysrophin-positive fibers appearing in the femoral quadriceps muscle of mdx mice after injection of the full-length human dystrophin cDNA within the pHSADy plasmid was examined by means of immunohystochemical techniques. Transfection was carried out using lipofectamine (LFA), or synthetic oligopeptide complexes that provided the condensation of plasmid DNA (K8) and its release from endosomes gopeptide complexes that provided the condensation of plasmid DNA (K8) and its release from endosomes (JTS1). The LFA + pHSADy at a dose of 10 micrograms DNA did not affect the number of dystrophin-positive fibers at the site of injection (0.

[Population features of gene mutation frequency of the CKR-5 receptor, determining sensitivity to the AIDS virus].

Recently, it was shown that a 32-bp deletion in the CKR5 macrophage chemokine receptor gene produced resistance to HIV infection. Frequencies of the CKR5 mutant allele in Russians, Tatars, Uzbeks, Kazakhs, Azerbaijanis, Uigurts, Tuvinians, and Georgians estimated by means of the PCR technique were equal to 0.13, 0.