[Study of genetic determination of base clinical components of metabolic syndrome].

Genetic analysis was carried out on the material including clinic and genealogical data about 510 patients with type 2 Diabetes Mellitus, 445 Essential Hypertension individuals, 239 abdominal obesity persons and their 1st degree relatives. It has been shown that the Essential Hypertension and abdominal obesity distribution in the population and families can be described by means of a variants polygene model with essential influence of the major genes. Gene complexes of predisposition to obesity, Essential Hypertension and Type 2 Diabetes Mellitus are independent, however, their liabilities are covered.

[Risk factors of thyroid cancer].

The authors observed 149 patients with nodal goiter and 39 patients with thyroid cancer for thyroid cancer risk factors. Frequency of thyroid cancer, malignancies and thyroid gland diseases was studied in the families of the observed patients. BRAF T1796A gene mutation was identified in 50 tissue samples of thyroid cancer of the patients. It has been shown, presence in relatives thyroid cancer and malignant new growths is thyroid cancer risk factor. BRAF T1796A mutation was identified in 27% of papillary thyroid cancer samples and its identification may be used to determine this risk factor of the development of papillary thyroid cancer clinical form.

[Cytogenetic investigation of somatic cells and morphofunctional characteristics of oocytes in women with reproductive function disorder]. / Tsitogeneticheskoe issledovanie somaticheskikh kletok i morfofunktsional'nye kharakteristiki ootsitov u zhenshchin s narusheniem reproduktivnoi funktsii.

Results of cytogenetic investigation of the rate and the types of chromosome aberrations in lymphocytes of peripheric blood in 31 infertile women are presented. The high frequency of karyotype abnormalities (16.4%) has been shown in the studied group. Morphofunctional characteristics of the oocytes of the women with normal and abnormal karyotypes have been compared. Oocytes of the patients with chromosome abnormalities were characterized by reduced ability to fertilization and further development.

[Use of immune and cytogenetic tests to assess the effect of different anthropogenic factors on the human organism in a large industrial region setting]. / Primenenie immunnykh i tsitogeneticheskikh testov dlia otsenki vliianniia na organizm cheloveka razlichnykh faktororv antropogennogo proiskhozhdeniia v usloviiakh krupnogo promyshlennogo regiona.

A feasibility is analyzed of our using a complex of immunological and cytogenetic investigations to assess the impact of adverse factors of antropogenic origination, chemical and radiation ones in particular, on the immune system and genetic apparatus in those persons residing under conditions of a large industrial region. Identified in the above subjects was the presence of different variants of secondary immunological insufficiency, chromosome and chromatid aberrations in liquidators of the effects of the Chornobyl accident, workers of chemicals--, by-product coke plants, and metallurgical works, the degree of the above insufficiency being decided by ecological conditions of residence, presence of occupational hazards, their nature, and duration of exposure.

[Dose curves for radiation-induced cytogenetic damage in human lymphocytes]. / O forme dozovykh krivykh radiatsionno indutsirovannykh tsitogeneticheskikh povrezhdenii limfotsitov cheloveka.

Insufficient fitness of experimental data with convenient linear and linear-quadratic models of "dose-effect" dependence for the number of chromosome aberrations of different types were revealed. Proposed method of approximation of the experimental "dose-effect" dependence with piece-linear splines allows to obtain more accurate results in the most cases and therefore is more preferable than the linear and linear-quadratic models.

[Cytogenetic disorders iin patients with chronic hepatitis B and C]. / Tsitogeneticheskie narusheniia u bol'nykh khronicheskimi gepatitami B i C.

The chromosomal apparatus of peripheral blood lymphocytes was studied in 19 patients with chronic hepatitis B (CHB) and 17 patients with chronic hepatitis C (CHC). Significant changes in cytogenetic indices were revealed in the both groups. Incidence of aberrant cells in CHC exceeded significantly that in CHB (15.3 +/- 1.5% vs 11.1 +/- 0.9% respectively; P < 0.05). Frequencies of aberration per cell and chromatid fragments were also significantly higher in CHC compared with both CHB and practically normal donor groups.

[Morpho-functional characteristics of hemoglobinopathies]. / Morfo-funktsional'n'ie kharakteristiki Ieritrona.

The approaches to the problems of primary diagnostics of the hereditary hematoglobinopathias caused by unbalanced synthesis of alpha and beta chains, as well as modern state of screening of hereditary thalassemic hematoglobinopathias are considered. The result of the available information analysis takes into account numerous peculiarities of this problem, including economic ones. Experience of an estimation of the displays of unbalanced synthesis of globin chains concerning the morphology of red blood cells is presented in the generalized form. The latter is a very important for preliminary diagnostics the hematoglobinopathias because, for the first, it may be realized at primary units of public health system service, for the second, it allows to narrow to an acceptable level the group of persons whose blood requires more complex and expensive researches.

[Biomedical research on a concentrate of carotenoids made from the North Atlantic sea cucumber Cucumaria frondosa]. / Mediko-biologicheskie issledovaniia kontsentrata karotinoidov iz severoatlanticheskogo morskogo ogurtsa Cucumaria frondosa.

Possibility of utilizing a carotenoid concentrate (CC) extracted from Cucumaria frondosa of the North Atlantic in foodstuffs and medicinal and prophylactic diet is considered. A complex of experimental studies including physiological, biochemical and morphological examinations has found that addition of CC in physiological doses to a diet of warm-blooded animals during 12 months causes no side effects. Utilization of CC in medicinal and prophylactic dietary nutrition may be beneficial.

[The cytogenetic indices of participants in the cleanup of the aftermath of the accident at the Chernobyl Atomic Electric Power Station and their correction]. / Tsitogeneticheskie pokazateli u uchastnikov likvidatsii posledstvii avarii na ChAES i ikh korrektsiia.

An analysis was performed of cytogenetic homeostasis in liquidators of the Chernobyl accident after-effects, which led to the belief that if the above contingent of subjects continue living in large industrial regions characterized by high levels of environmental contamination with industrial waste, such as that formed in the chemical, by-product coke, and metallurgical industries, they will not dispel disorders of the cytogenetic homeostasis (chromosomal and chromatic aberrations), which fact is believed to be due to the inhibition of the processes of elimination of somatic cells with a faulty genotype. Proposed for the correction of cytogenetic disorders are such options as a complex of antioxidants and intravascular laser irradiation of blood, that will, we believe, help in restoring the cytogenetic homeostasis.

[The clinical and molecular genetic characteristics of phenylketonuria patients in the Republic of Crimea]. / Klinicheskaia i molekuliarno-geneticheskaia kharakteristika bol'nykh fenilketonuriei v Respublike Krym.

The clinical and genetical characteristics of patients with phenylketonuria in the Crimean population is done in the present work. The comparison of clinical peculiarities of 28 patients, revealed by means of neonatal screening and that of 24 patients, the treatment of which was started late is presented. The prenatal diagnostics of 4 families with high phenylketonuria risk is conducted.

[The dependence of the level of chromosome aberrations in human lymphocytes on the duration of their cultivation under ultraviolet irradiation]. / Zavisimost' urovnia khromosomnykh aberratsii v limfotsitakh cheloveka ot dlitel'nosti kul'tivirovaniia pri obluchenii ul'trafioletom.

The effect of duration of cultivation of lymphocytes of human UV-irradiated peripheral blood on the chromosomal aberration rate was studied. Under prolonged cultivation the more irradiated blood samples revealed higher level of chromosomal aberrations. The existence of UV-induced delayed chromosomal instability is supposed that may be found under prolonged cultivation. The mechanisms of this phenomenon are discussed.

[The immune indices of women of child-bearing age who live under the conditions of a large industrial region in the Donets Basin]. / Immunnye pokazateli u zhenshchin detorodnogo vozrasta, prozhivaiushchikh v usloviiakh krupnogo industrial'nogo regiona Donbassa.

An attempt was made to find out whether it is feasible to use a certain set of immune tests in the evaluation of systemic effects of harmful environmental factors in women of child-bearing age, for which purpose 328 female subjects 17 to 38 years old, living under environmental health-hazard conditions within the zone of Donbass region were studied. Immunogrammes of the examines allowed judgement about relatedness of the degree of immune disorders to environmental conditions of life and presence of occupational hazards.

[A molecular genetic analysis of spinal muscular atrophy (SMA) in families at high risk from different regions of Ukraine]. / Molekuliarno-geneticheskii analiz spinal'noi myshechnoi atrofii (SMA) v sem'iakh vysokogo riska iz raznykh regionov Ukrainy.

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.

[The antimutagenic action of apiculture products]. / Antimutagennoe deistvie produktov pchelovodstva.

Using the battery of test-systems, we studied the possible antimutagenic activity of some products of apiculture. It is established that apilak-preparation made on the basis of queen bee milk didn't show gene-protective abilities in Ames test. The rest products of apiculture: propolis, beebread, honey preparations N1 and N2, and queen bee milk manifested to some degree their ability to decrease the mutagenic effects of some chemical and physical mutagens. The toxic effect of propolis upon yeast cells was established. Queen bee milk manifested the least antimutagenic properties (on all test-objects used in experiments).

[The cytogenetic activity of some brands of epoxy resins]. / O tsitogeneticheskoi aktivnosti nekotorykh marok époksidnykh smol.

The studies have allow us to ascertain that some epoxy resins, such as DE-500, DE-1000, DE-2000, UP-650, UP-650T, under gastric administration at the dose levels of 1/10 and 1/50 DL50 (DL50 = 5338 +/- 1134, 6644 +/- 1114, 9180 +/- 1154, 7717 +/- 586, 6980 +/- 621 mg/kg for DE-500, DE-1000, DE-2000, UP-650, UP-650T respectively) and ED-22F under inhalational exposure at 1 mg/m3 as per epichlorhydrine over three to four months, have a striking effect on the chromosomal apparatus of the laboratory animals bone marrow cells, bringing about chromosomal structural aberrations. The cytogenetic activity was found to be dependent upon the dose employed as well as duration of the exposure and chemical structure of the epoxy resins.

[The mutagenic activity of suspended particles in the atmosphere in the industrial cities of Ukraine]. / Mutagennaia aktivnost' vzveshennykh chastits atmosfernogo vozdukha v industrial'nykh gorodakh Ukrainy.

The total mutagenic activity of chemical pollutants was studied by semi-quantitative Ames test in atmosphere of towns with different specificity of industrial development: towns with developed metallurgy, chemical industry, and relatively clean towns. The air samples from towns of metallurgical and chemical industry shown middle mutagenicity.

[The cytogenetic analysis of unfertilized human oocytes]. / Tsitogeneticheskii analiz neoplodotvorennykh ootsitov cheloveka.

Cytogenetic analysis of 186 unfertilized human oocytes obtained from 145 women were carried out according to programs of in vitro fertilization. The ratio of different cytogenetic types of oocytes in their heterogenic population was determined. At least 30% of oocytes were shown to have nuclear and cytoplasmic immaturity. The level of chromosome anomalies in oocytes of second meiotic metaphase comprised 30.8%.

[The evaluation of the mutagenic activity of gaseous particles in the atmospheric air by using a microbiological test]. / Otsenka mutagennoi aktivnosti gazovykh chastits atmosfernogo vozdukha s pomoshch'iu mikrobiologicheskogo testa.

Total mutagen activity of a gas component in chemical pollutions of the atmospheric air in a number of industrially developed towns of Ukraine has been studied and assessed in a microbiological test on Salmonella typhimurium. The towns were chosen proceeding from the specificity of industry: metallurgical industry (Mariupol, Zaporozhye, Donetsk, Krivoi Rog, Makeevka); chemical industry (Cherkassy, Chernigov; Kremenchug, Severodonetsk, Lisichansk, Gorlovka, Rovno, Sumy) and conditionally control ones (Simferopol, Sevastopol, Nikolaev, Poltava, Zhitomir). The air samples, 100 m3, have been taken in each town weekly during a month by special absorbers of Polysorb-2 type. The extraction of chemical matters from absorbers was carried out by traditional methods. Chemical matters were dissolved in dimethyl sulphoxide and tested for its ability to induce the gene mutations. The studies have shown that the atmospheric air samples from the group of "metallurgical" towns prove the mutagen activity, classified as the "middle" one (the number of revertant colonies in the experiment exceeded the control 10.3 to 22.2 times). The mutagenicity of "chemical" towns was on the level of "middle" and "weak", that of conditionally control ones was on the level of "weak" only.

[The problems of genetic research on human oocytes and early embryos]. / Problemy geneticheskogo issledovaniia ootsitov i rannikh zarodyshei cheloveka.

Main results of cytogenetic analysis of unfertilized human oocytes and early embryos obtained in programs of in vitro fertilization are presented. Some approaches in investigations of oocytes and early embryos, main chromosomal anomalies and prospects of preimplantation diagnosis of some hereditary diseases are briefly reviewed. The necessity to develop gamete and early embryo cytogenetics in Ukraine is discussed.