Somatic mutagenesis in human lymphocytes depending on genotypes for detoxification and oxidative response loci

Associations of polymorphism of seven detoxification genes and three genes of oxidative response with the frequency of chromosome aberrations in human peripheral blood lymphocytes were studied. The genotyping data were correlated with the frequencies of spontaneous and γ-induced (1 Gy in vitro) chromosome aberrations estimated for a group of healthy donors (97 males under 25 years of age) by analyzing 500–1000 metaphase cells per individual. The spontaneous level of chromosome-type aberrations was reduced in homozygotes for the GSTM1 locus deletion, and especially in double homozygotes for deletions of the GSTM1 and GSTT1 genes. The frequency of γ-induced chromosome-type aberrations was reduced in G/G homozygotes for the minor allele of the poorly studied CYP1A1 T606G site: 0.094 ± 0.006 against 0.112 ± 0.002 for T allele carriers (P = 0.004). Linkage of the T606G site with well known and functionally important sites of the CYP1A1 gene (A4889G, T3801C) was analyzed.     

Enzyme immunoassay system for detection of staphylococcal enterotoxin,type C

An enzyme immunoassay (EIA) system for detection of staphylococcal enterotoxin, type C, has been developed. The sensitivity of the system is 1 ng/ml. The optimum EIA parameters have been worked out. The absence of false positive results with heterologous toxins confirms the specificity of the assay system. The possibility of the detection of staphylococcal enterotoxin, type C, in staphylococci isolated from different sources has been shown.     

The concept of typological variability of physiological individuality: II. Somatotype heterogeneity of population groups differing in habitual physical activity

Individual typological characteristics of habitual physical activity (HPA) in subjects of the preschool, primary school, and young adult ages were determined, and three functional types (FTs) comprising subjects with low, medium, and high HPAs (LHPA, MHPA, and HHPA, respectively) were distinguished (FT-1, FT-2, and FT-3, respectively). Subsequent comparison between the three groups of subjects showed that they differed in the ratio between the numbers of subjects with different morphological types (somatotypes). The results are at variance with the generally accepted notion on unidirectional changes in functional characteristics in the eurysomy-leptosomy series and permit a conceptual approach to the development of a partial (functional) scheme of constitution.     

Allelic variants of polymorphic genes associated with a higher frequency of chromosome aberrations

Genotypic associations were studied for the frequency of chromosome aberrations in human peripheral blood lymphocytes. Cytogenetic analysis (1000 metaphase plate per individual) and genotyping at 19 sites of genes involved in detoxification and DNA repair were performed in a sample of 83 Chernobyl liquidators and a matched control sample of 96 volunteers. In either sample, the frequency of chromosome aberrations was higher in carriers of the minor alleles of the XPD gene (sites 2251T > G and 862G > A) and the positive genotypes of the GSTM1-GSTT1 genes. The highest frequency of chromosome aberrations was observed in carriers of a combined genotype including at least one minor allele of the XPD sites + at least one insertion in the GSTM1-GSTT1 genes. The high-risk genotype, which had a prevalence of 64%, was strongly associated with a higher frequency of chromosome aberrations in both volunteers (OR = 6.9, P = 0.008) and Chernobyl liquidators (OR = 5.6, P = 0.002).     

Polymorphism of repair genes and cytogenetic radiation effects

For 99 healthy volunteers, the frequencies of spontaneous and y-induced (1 Gy in vitro) chromosome aberrations in blood lymphocytes were compared with the results of PCR-genotyping by 8 repair genes: XRCC1, XPD, ERCC1, APEXI, RAD23B, OGG1, ATM, Tp53 (in all, 10 polymorphic sites). The frequency of spontaneous aberrations of chromosome type increased additively with the number of copies of minor allele of excision repair gene XPD variant *2251G and *862A D (p = 0.025). The frequency of gamma-induced chromosome aberrations proved to be elevated for the carriers of a minor allele OGG1*977G (p = 0.011). The significantly elevated number of gamma-induced chromosome aberrations was also observed for the carriers of major alleles XRCC1*G1996 and XRCC1*C589 (p = 0.002).     

Polymorphism of repair genes and cytogenetic radiation effects

Frequencies of spontaneous and γ-induced (1 Gy in vitro) chromosome aberrations in blood lymphocytes of 99 healthy volunteers were compared with the results of PCR genotyping for eight repair genes: XRCC1, XPD, ERCC1, APEX1, RAD23B, OGG1, ATM, and Tp53 (in all 11 polymorphic sites). The frequency of spontaneous aberrations of the chromosome type additively increased with the number of copies of minor allele variants 2251G and 862A of the nucleotide excision repair gene XPD (p = 0.025). The frequency of γ-induced chromosome aberrations proved to be elevated for the carriers of the minor allele OGG1 977G (p = 0.011). A significantly elevated level of γ-induced chromosome aberrations was also observed for the carriers of the major alleles XRCC1 G1996 and XRCC1 C580 (p = 0.002).     

Renal radionuclide scintigraphy in the evaluation of radiopaque substances on renal function

To evaluate the nephrotoxic effect of radiopaque substances (ROS) by renal radionuclide scintigraphy, 47 patients were examined before and after coronary ventriculography. Iohexol, iobitridole, and ioxythalamate were used as ROS in 15, 18, and 14 patients, respectively. The parameters of renal filtration and excretory function were calculated during study. Ioxythalamate was shown to have a less pronounced nephrotoxic effect.     

Role of toll-like receptor 2 and 4 gene polymorphisms in the development of allergic diseases with increased IgE levels

The aim of this research was to identify the role of the TLR2 (NP_003255.2) and TLR4 (NP_612564.1) gene polymorphisms with regard to the increase in the specific IgE production level and development of allergic diseases. Genotyping of three single nucleotide polymorphisms was performed using the polymerase chain reaction (PCR) method. The obtained results suggest that the most significant causative allergens are epidermal and household allergens (epidermis of cats, dogs, horse, D. farinae, and D. pteronyssinus). A relationship between the TLR2 (rs5743708) and TLR4 (rs4986790) polymorphisms and an increased production level of specific IgE in patients with allergic diseases was also observed.