The genetic-epidemiological analysis of hereditary diseases in Republic Sakha (Yakutia) on the basis of the Republican genetic register is carried out. 8 hereditary ethnospecific diseases named “Yakut hereditary diseases” are revealed: spinocerebellar ataxia of the 1 type, myotonic dystrophy, hereditary enzymopenic methemoglobinemia I type, oculopharyngeal myodistrophy, Friedreich ataxia, Kennedy’s spinal-bulbar amyotrophia, 3-М syndrome, SCOP-syndrome, which are met with high frequency among the Yakut population and have ethnospecific molecular-genetic cause.

In work data of the pilot project on studying of prevalence of deficiency 21-ОН genetic markers in populations of the Far North are presented. 463 DNA samples of children living in Republic Sakha (Yakutia) and Yamal-Nenets autonomous region are surveyed by method of polymerase chain reaction.

The aim of the present investigation is to study Neurofibromatosis type 1 prevalence in Republic of Bashkortostan. The disease is distributed irregularly through various districts of the Republic, on average, NF1 occurrence in Bashkortostan is 4,7 cases per 100 000 inhabitants. The disease was revealed in all ethnic groups of the studied population. In women the disease was slightly more frequent than in men (1,2:1). THis study shows the variability of the NF1 phenotype. In 55,0% of NF1 cases only one person in the family tends to suffer from the disease.

For the first time in children’s population of Republic Sakha (Yakutia) on the basis of clinical and epidemiological research morbidity and prevalence of congenital aural atresia (CAA) are studied. Influence of an ethnic belonging on CAA morbidity in children of Yakutia is proved.

The most frequent mutations responsible for non-syndromic autosomal-recessive form of neurosensory hearing loss in genes GJB2 (35delG), GJB6 (del (GJB6-d13S1830) and del (GJB6-d13S1854)) and TMC1 (R34X) were analyzed. Molecular-genetic testing was performed in Kirov region on 125 probands with non-syndromic neurosensory hearing loss, having hearing disorders of different etiology. 35delG mutation in GJB2 gene was found in 36 probands. There were no del(GJB6-d13S1830) and del(GJB6-d13S1854) mutations in GJB6 gene or R34X mutation in TMC1 gene found in analyzed samples. Thus, during genetic consultation of neurosensory hearing loss patients of russian nationality searching for 35delG mutation in GJB2 gene is most crucial as in European populations. Recent results and our previous research on Russia etnical groups show that the development of region-specific examination protocols for non-syndromic neurosensory hearing loss patients is needed.

The basic results of ethnogenomic researches of indigenous population of the Republic Sakha (Yakutia), lead in a department of molecular genetics of YSC CMP SB RAMS are presented.

Genetic-demographic research of 12 settlements from 8 areas Republics Sakhas (Yakutia) is conducted. It is established that the surveyed settlements differ on the genetic-demographic structure which features are defined by History of their formation, national structure and level of social and economic development of region of their localisation.

The architecture of linkage disequilibrium (LD) in human genome is now the subject of intensive studie. In the present work genetic differentiation and structure of LD in the methylenetetrahydrofolate reductase gene (MTHFR) was examined in population of Yakuts in comparison with the samples of Caucasians, Chineses and Japaneses from HapMap project. In the explored groups we examined haplotype, genotype and allele frequencies at 10 SNPs of MTHFR gene: rs2066470, rs17037397, rs4846052, rs1801133 (C677T), rs6541003, rs2066462, rs1801131 (A1298C), rs17375901, rs2274976 (G1793A) and rs1537516). Population-specific nature of structure of LD in MTHFR gene was demonstrated.

Aim. Prediction of prevalence of spinocerebellar ataxia type 1 (SCA1) in the simulated Yakut populations.
Materials and methods. The computer program for simulation of prevalence of Unstable Triplet Repeat Diseases in human populations which includes modelling natural reproduction of the population and imitation of accumulation of dynamic mutation in a population is developed.
Results. The prediction of the disease accumulation shows that is requires 1290 years to eliminate a mutation from population by reducing life expectancy of the patients and decreasing their birthrate. At rendering medical and genetic assistance to the population, which results in the descendants born without a mutation in SCA1 gene in the volume of 1 % from the number mutant alleles of the carriers by 2000 tHis period is reduced to 180 years.

Aim of study: To study the reasons of nonsyndromic sensorineural hearing loss, one of frequent hereditary pathologies in the Republic of Sakha (Yakutia), the search of mutations is conducted in the coding region of GJB2 gene in 79 patients from 65 families with a sensorineural hearing loss of III-IV degree (moderate and profound).
Results. In GJB2 gene in patients from the Republic of Sakha (Yakutia) we identified 5 different recessive mutations 35delG, V37I, 312-326del14, 333-334delAA, R127H and three sequences variant V27I, M34T, E114G. In Caucasian patients (Russians, Ukrainians, Ingush) the mutations 35delG (41.7%), 312-326del14 (4.2%), 333-334delAA (4.2%) were found. In Yakut patients with non-syndromic sensorineural hearing loss the mutations 35delG (2.1%), V37I (2.1%), R127H (1.0%) and sequences variants V27I (6.3%), M34T (1.0%), E114G (1.0%) were identified. GJB2 mutations were found in 50.1% Caucasians patients and 7.2% Yakut patients.
Conclusion. Low frequency of GJB2 mutations in Yakut individuals with non-syndromic sensorineural hearing loss, can testify to the presence in Yakut population of mutations in other genes, responsible for infringement of sound perception process.

According to the Republican genetic register of a hereditary and congenital pathology of Republic Sakha (Yakutia) from 2001 to 2008 26 forms of a monogenic hereditary pathology of nervous system are diagnosed in total, from them 16 - in the children’s population. Autosomal dominant HINS prevail. The widest spectrum of various nosological forms is presented in group of nervous-muscular diseases.

In article three one-nucleotide polymorphic sites (rs2231301, rs1950252, rs2268330) in a locus of oculopharyngeal myodistrophy (OPhMD) are examined. OPhMD is a myopathy with late manifeSTATion due to a mutation (expansion (GCN) 10 repetitions to (GCN) 12-17 on a chromosome 14q11 in the 1st exon of gene PABPN. Results of research have allowed revealing factor of genetic differentiation of populations of Yakutia in comparison with world data. Haplotypes frequencies which have shown, that three populations of Yakuts are practically identical on haplotype structure and on frequencies of extended haplotypes. The analysis of unequilibrium structure on coupling has shown high coupling on the first and the third SNP (rs2231301 and rs2268330). On the basis of frequencies of genotypes of ОPhMD locus the phylogenetic tree of genetic distances between six studied populations of Yakutia has been simulated.

In the article condition and prospects of medical-genetic assistance to population of Republic Sakha (Yakutia) are illustrated. The efficiency of close cooperation of practical and scientifical sections of medical-genetic service in the region is shown.

The purpose of research. Analysis of structure of a chromosomal pathology in prenatal period by results of invasive cytogenetic diagnostics in RS (Y) from 1999 to 2008.
Materials and methods. In work the analysis of 72 cases of the chromosomal pathology established by cytogenetic method by means of invasive methods of a fetal material aspiration is lead.
Results. The wide spectrum of a chromosomal pathology in fetuses with various vital forecast is revealed.
The conclusion. Classical cytogenetic method allows to reveal a significant part of a chromosomal pathology and is the basic method in differential diagnostics of the reasons of congenital developmental anomalies. For diagnostics of rare and difficult cases of chromosomal aberrations use of hi-tech genetic methods of research is necessary.

In the article data on prenatal diagnostics of hereditary diseases of expansion: spinocerebellar ataxia I type and myotonic dystrophy are presented. Features of medical-genetic consultation of the families which have addressed for the medical-genetic help are discussed.

We studied the prevalence and efficiency of medical supervision of neurodegenerative diseases in Yakutia. The results of neurologists work and data of neurological department of Republic Emergency Centre testify to incomplete scope of medical supervision of patients with neurodegenerative diseases. Highest frequency of neurodegenerative diseases is observed in Abiyskiy and Allaikhovskiy districts among the native population.

In article actions on the organization of mass inspection of newborns on hereditary illnesses of exchange in Republic Sakha (Yakutia), the first results of screening under the expanded programme within the limits of the priority national project “Health” are presented.

Preimplantation genetic diagnosis (PGD) provides an opportunity to prevent single gene disorders at the earliest stages of human embryo development. Despite complications of tHis diagnosis, including the necessity of IVF (in vitro fertilization) for partners, limited time for analysis performing and minimum DNA quantity, PGD technique is developing very fast and becoming a part of clinical practice. One of the main problems to solve for DNA analysis of single cells is effective amplification of genetic material.

In tHis study we introduce the results of molecular-cytogenetic study of five men with chromosome rearrangements and reproductive failure. They are patients of the Center for Reproductive Medicine in Krasnoyarsk. Using SKY technique in four cases and FISH method in three cases we localized chromosome breakpoints and found unbalanced translocations in three patients and balanced translocations in two patients.

The purpose of research. To compare a level of uneasiness in patients with spinocerebellar ataxia I type, myotonic dystrophy, their relatives and in the healthy population.
Materials and methods. For the decision of the purpose of research 63 patients and 130 healthy persons as the control group, addressed to medical-genetic consultation and during exit business trips have been questioned. Psychodiagnostic method - the test «a self-estimation scale», developed by Ch.D. Spilberger and adapted by J.L. Hanin, is used.
Results. High personal (46,7 points) and moderate reactive (42,5 points) uneasiness is noted in patients. In healthy relatives high personal uneasiness, on quantitative points a little bit higher, than in sick people - 48,5 points is revealed.
The conclusion. High personal uneasiness, mainly in women, and moderately increased reactive uneasiness in patients with spinocerebellar ataxia I type, myotonic dystrophy and their not affected relatives living jointly, in comparison with control group, is revealed.

The value of genetic counseling at carrying out of genetic testing in public health services is discussed. The review of new international documents devoted ethical aspects of genetic testing for health purposes is presented.

Methylation STATus of RB1, p14ARF, and p15INK4B cell-cycle control genes was investigated in 40 cases of breast cancer by methylationspecific polymerase chain reaction. The frequency of cancer-related gene methylation was: p14ARF (72%), p15INK4B (12%) and RB1 (0%). It is suggested that epigenetic inactivation of Rb growth-control pathway in breast cancer can be mediated on the cycline-dependent kinase inhibitors level.

We carried out screening of patients with breast cancer (n=60) and healthy population controls (n=120) of Republic Sakha (Yakutia) on presence of mutations 5382insC, 4153delA, С61G in BRCA1gene, mutations IVS2+1 G>A, CHEK2dele9,10 (5kb), 1100delC in CHEK2 gene and 657del5 in NBN gene. These mutations have not been found in the cohort.

Using allele-specific hybridization on the biochip the frequencies of xenobiotic-metabolizing gene polymorpHisms (CYP1A1, CYP2D6, GSTT1, GSTM1, MTHFR, CYP2C9, CYP2C19 и NAT2) in patients with bronchial asthma and controls of Tatar ethnicity have been determined. It has been shown that NAT2*481T/T genotype and NAT2*481T, MTHFR*677C alleles are markers of asthma risk.

The analysis of c.454-397T>C, c.454-351A>G и (ТА)n polymorphic loci of ESR1 gene in postmenopausal women Tatars and Russians origin from Volga-Ural region and association of the allelic variants and their combination with the risk of fracture development and BMD, estradiol level has been conducted. The association of ESR1*G*A genotype of c.454-351A>G polymorphic locus with the low risk of osteoporotic fractures has been discovered (OR=0,61; 95%CI 0,46-0,95), and allele ESR1*G – with the high risk of osteoporotic fractures (OR=1,57; 95%CI 1,06-2,3) in Russians women. The associations of ESR1*A*A genotype and ESR1*T*A haplotype of ESR1 gene with high level of estradiol has been shown in Tatars women.

The purpose of research. Studying polymorpHisms of some candidate genes of the cardiovascular diseases in Yakut with myocardial infarction.
Summary: We genotyped by the polymerase chain reaction (PCR) and RFLP – restriction fragment length polymorpHism 254 male for the following polymorpHisms: 2059С/Т and 2197С/Т of APOЕ gene, 34622С/Т and 41064A/G of APOB gene, 22125T/G of LPL gene, 20200A/G of CETP gene, VNTR of NOS3 gene, 16341G/A of PON1 gene, I/D of ACE gene, 1166A/C of AT1R gene. The 41064A/G of APOB, 1166A/C of AT1R, 2059С/Т and 2197С/Т of APOЕ, VNTR of NOS3, I/D of ACE were associated with myocardial infarction in Yakut.

PolymorpHisms of GATA4 gene, encoding cardiac specific transcription factor, influencing genetic expression in the heart at the different stages of biological development, as well as at the pathological conditions have been studied. Genotypes on GATA4 tagging SNPs rs804271, rs8191515 and rs2898293 were identified in control group with normal echocardiographic parameters (N=280) and in patients with ischemic heart disease (n=130). Association of rs804271 GG genotype with higher left ventricular mass index in woman of control group had been revealed: 96,0±12,7 g/m² in TT carriers versus 90,3±12,2 g/m² and 90,4±12,1 g/m² with genotypes GG и GT, accordingly (р=0,037). rs2898293 genotypes were associated with ejection fraction in patients with ischemic heart disease (p=0,05).

For the first time an analysis of contribution of alleles of haemostasis genes, encoding fibrinogen alpha (FGA), fibrinogen beta (FGB) and tissue plasminogen activator (TPA), in genetic susceptibility to and clinical aspects of hemorrhagic stroke (HS) was performed in ethnic Yakuts. HS patients compared to controls demonstrated significant increase of frequency of FGA4266А/А genotype carriage: 26,9% vs 16,1% (p=0,04, OR=1,9, CI 1,0 - 3,8) and corresponding decrease of FGA4266G allele carriage: 73,1% vs 83,9% (p=0,04, OR =0,5, CI 0,3 - 1,0). We identified tri-allelic combination: FGB−249C; FGA4266G; TPA−7351C, which carriage is significantly differed in HS patients with different types of haemorrhage.

Sociability-related personality traits are assumed to be intermediate phenotypes predisposing to addiction. In order to reveal alcoholism and opiate addiction risk markers we conducted comparative analysis of allele and genotype distribution of VNTR loci in promotor region of DRD4 gene between patients of Tatar, Russian, Bashkir, Yakut, Evenk ethnicity and matched controls. DRD4 S-allele was revealed to be the risk marker for opiate addiction in Tatar male, while both DRD4 S/S-genotype and DRD4 S-allele were demonstrated to be the risk markers for alcoholism in Tatar and Russian males. As a result of analysis of variance considering gender and ethnical differences and performed in healthy individuals subjected to personality traits assessment, STATistically significant increase in Extraversion in Tatar male and in Persistence in Russian male DRD4 S-allele carriers was observed. Revealed findings point to the presence of positive correlation between decreased dopaminergic activity and higher risk of alcohol and opiate addiction, increase in Extraversion and decrease in Persistence.

To study the correlation of pathological and normal genotypes of DNA hOGG1, XPD1, XPG, XRCC1, XRCC2 excision reparation genes andGSTT1, GSTM1 genes in patients with gastric cancer.
Material and methods: The study included 90 patients with malignant neoplasms of the stomach. Malignant neoplasm’s were represented, mainly, by adenocarcinomas of various differentiation degree (83,3%), signet ring cell carcinoma (7,4%) and non-differentiated carcinoma of the stomach (9,3%). Patients with malignant neoplasms in care of indications received surgical treatment plus chemo or radiotherapy. The main control group consisted of 231 practically healthy age and sex matched residents of Tomsk. The results obtained are indicative of a statistically significant increase of the frequency of major allele of XRCC1 c194T, XPD1 A751C gene. Major allele carriage by this polymorphism increases risk for gastric cancer development. It should be noted that in the group of patients with carcinoma of the stomah a new association of A allele of XPD1 A751C gene has been revealed with a high risk for this pathology development. The given association in this group of oncologic patients was not established before.

The purpose of research. Studying of structure of virus B genotypes and definition of PreS1/PreS2/S-genes heterogeneity in territory of Yakutia.
Methods and materials. 16 isolates, allocated in patients with chronic hepatitis B from Ust-Aldanskij region by “nested” PCR method, are studied.
Results. The phylogenetic analysis of nucleotide sequences has shown presence of three genotypes of a virus B - A (44 %), C (12%) and D 944%). Amplification of virus B genome fragments, corresponding PreS1/PreS2/S-genes by «nested» PCR method in blood serums, positive on DNA virus, is lead. The analysis of nucleotide sequences of studied isolates on localization of replacements and deletions in tHis or that site of PreS1/PreS2/S genes has allowed revealing of a significant amount of replacements. The significant genetic variety of viruses of hepatitis B, especially isolates, belonging to VHB A and D genotypes is revealed. Aminoacid replacements causing VHB ability to “diagnostic” escaping are found out.
Conclusion. 3 variants of virus B genotype are found out: A, C and D and genetic variety of genotype A and D is revealed.

In this review, we compared IFNG, STAT1 and MCP1 expression levels in human peripheral blood mononuclear cells (PBMC) stimulated by PHA (phytohemagglutinin), TDM (trechalose 6,6’-dimicolate, cord-factor from Mycobacterium tuberculosis), LPS (lipopolysacharide from Salmonella enterica serotype enteritidis), IFN-γ (interferon gamma), IL-4 (interleukin 4) and their combination. It was shown that inductor TDM had insignificanf influence on expression level of innate immunity genes, but the combination TDM and IFN-γ increased their expression. Increased gene expression level of IFNG, STAT1, MCP1 expression levels were also detected in PBMC exposured with LPS, IL-4 and their combination.

Aim. Analysis of relationship between the gene polymorpHisms of cytokine signal molecules with bronchial asthma and opisthorchiasis.
Materials and methods. Polymorphisms of TBX21, STAT2, STAT4, SOCS7, PIAS4, PIAS3 were analised by PCR-RELF genotyping in the patients with bronchial asthma (BA), opisthorchiasis an their combination.
Results. Association between the polymorphism rs12756687 PIAS3 with function of lung among the patients with BA was shown, evidence of association was observed between the polymorphism rs2066807 STAT4 and BA combined with opisthorchiasis, association of the polymorphism rs3890580 SOCS7 with IgE level of the patients with opisthorchiasis but not with BA.
Conclusion. These data can serve a basis for further study of susceptibility to helminth infection and modifying effect of opisthorchiasis on BA course.

Association of the G-308A TNF gene polymorpHism with several clinically important cardiovascular endophenotypes such as arterial blood pressure measurements and cardiac parameters had been studied. Allele and genotype frequences were compared between patients with arterial hypertension (n=231), healthy controls (n=331) and nonagenarians (mean age=92, n=131). No significant differences among those groups were revealed. In patients’ group with arterial hypertension combined with diabetes type 2 A-308 allele frequency was higher in left ventriculi hypertrophy (LVH) subgroup than in patients without LVH: 18% vs 8% (p=0,033). Left ventricular remodeling index was significantly higher in AA genotype carriers as compared to GA and GG genotypes: 0,552±0,057 vs 0,433±0,008 and 0,429±0,018, appropriately (p=0,013). An association of G-308A TNF gene polymorpHism with twenty-four-hour monitoring blood pressure measurements was revealed in hypertensive patients without diabetes.
Thus G-308A TNF polymorpHism was associated with several important cardiovascular endophenotypes but not with longevity.

G-308A polymorphism in the tumor necrosis factor-alpha (TNF) gene has been studied in the Buryat population by genotyping samples from 16 subpopulations from 5 areas of Republic Buryatiya (N=865). The TNF-alpha G-308A polymorphism was assessed by the PCR and restriction analysis. It has been shown that frequency of the A allele in Buryats was 11.5 %. At comparison with other Siberian populations, statistically significant differences with Yakuts were found. In several subpopulations the deviation of genotype frequencies from Hardy-Weinberg equilibrium was revealed. Calculation of genetic differentiation measure for all settlements (Gst=0.0167) and for 5 investigated areas (Gst=0.0053) did not demonstrate significant differentiation of a gene pool of Buryats by the given polymorphism. The results give for Buryat population the characteristics of prevalence of functionally significant polymorphism for which associations with various multifactorial diseases are known.

The purpose of research. To reveal circulation of hepatitis C virus genotypes in patients with hepatitis C in the Yakut population.
Material and methods of research. Blood serum of 126 patients with chronic hepatitis C, from them 42 patients with HIV-infection is investigated. Virus genotyping was held with application of PCR-test-system, allowing determining VHC genotypes: 1a, 1b, 2, 3а.
Results. In Republic Sakha hepatitis C morbidity did not exceed mean Russia’s level. Virus carrying decreased from 188, 4 up to 59, 2 on 100 thousand population. The virus of hepatitis C is revealed in 67, 4-76, 4 %, the genotype 3а in 10,9-18,8 % of patients with chronic monohepatitis C. Among patients with chronic hepatitis C with HIV-infection in 43 % - genotype 1b is revealed and in 35,7 % - a genotype 3а. The combination of various combinations of genotypes of virus C - 1b + 3а, 1b + 2а, 1b + 1а, 1а + 2а is revealed.
Conclusions. Hepatitis C morbidity in Yakutia is below Russian one. It is established, that in Yakutia the basic genotypes of a virus C, causing a chronic virus hepatitis C in the population, are 1b (68, 8-76, 4 %) and much less 3а (13, 4-18, 8 %).

Family inspection of 70 probands with diagnosis bronchial asthma (BА) and 162 their relatives of I, II, III degrees of relationship (the basic group) is held. Healthy people have been included in control group (n=263). In work the standard complex of inspection of the persons with BA, moleculargenetic methods of research, and also methods of STATistical data processing are used. Results of research of hemokine receptor ССR5 gene polymorpHism in coding area in BA patients and their relatives in comparison with control group are presented. It is established, that polymorpHism of a hemokine receptor CCR5 gene in coding area is associated with BA and is important component of hereditary predisposition to BA.

The results of candidate genes of type 1 diabetes search and their interaction with cellular and humoral immunity parameters are shown in tHis article. It is revealed, that NOS1 (C3392T), NOS3 (C-691T, VNTR, C774T, G894T), IL1B (+3953), IL1RA (VNTR), IL4RA (A148G) genes are associated with disease and it’s complications. These associations of candidate genes type 1 diabetes with parameters cellular and humoral immunity prove an involvement of the given systems into development of type 1 diabetes and it’s complications.

Results of the analysis of association of polymorphic variants of genes interleukine-5 (IL5), α - and β – linkage of its receptor (IL5RA, IL5RB) with bronchial asthma (BА) are presented. Research is spent in group of 103 unrelated patients with atopic BA, Yakuts on ethnicity and 223 healthy unrelated Yakuts. In group of BA patients prevalence of allele IL5R β * G1972 polymorphic variant G1972A of gene IL5R β and genotype IL5R β *G/*G is revealed. Statistically significant values on the raised risk of BA development have been noted for genotype IL5R α *G/*A polymorphic variant G-80A of gene IL5R α. Polymorphic variant С-703Т of gene IL5 with risk of atopic BA development in the Yakut population was not associated.

For association study results for SNP IL12B (rs3212227), IL4RA (rs1805010) and GSTM1 (del) with secondary tuberculosis, atrophy bronchial asthma, 1 type diabetes, we estimated effect of sample size on association significance. We have shown that it is possible to increase significance level of association with some common diseases by increasing number of controls.

Problem of assessment of occupational ionizing radiation influence on human organism requires special attention. As a result, investigations of new informative biomarkers of genotoxicological influence are particularly relevant. Numerical chromosomal abnormalities formed due to disruption of chromosome segregation machinery can be one of these markers. Modern technologies of molecular cytogenetic analysis provide a unique opportunity to register aneugenic events in human somatic cells. In tHis paper we have shown potential application of fluorescent in situ hybridization on cytokinesis-blocked lymphocytes of peripheral blood using centromere-specific DNA probes to individual chromosomes and pancentromeric DNA probes for complex assessment of ionizing radiation influence on chromosomal segregation. Special features of aneugenic effect of incorporated plutonium-239 in somatic cells of nuclear facility workers were revealed.

The allele and genotype distribution of two alcohol metabolizing enzymes ADH1B*Arg47His and CYP2E1 Pst I (G/C) as well as the exon 9 1342 A/G and variable number of tandem repeats (VNTR) polymorpHisms in the 3 ‘-untranslated region (3’-UTR) of the dopamine transporter DAT1 (SLC6A3) gene were investigated in three Yakut populations in comparison with Yakut alcoholics men. The three Yakut populations were combined in total population control group. Genotype frequencies of all four examined loci obeyed the Hardy-Weinberg equilibrium both in control and in patient groups. No associations in allele frequencies of two alcohol metabolizing enzymes with alcoholism in Yakuts were revealed. Almost significant association (р = 0,055) of A/G and significant association of VNTR (р = 0,015) polymorphisms in DAT1 gene with alcoholism in Yakut population were found. In the same time, moderate LD between these two loci was observed in patients, but not in the control group. The haplotypes contributing to alcoholism susceptibility (“Х_G”; р = 0,013) and protective with the respect to the disease (“Х_A”; р = 0,043) were revealed, where X denotes any allele except those with 10 repeat copies.

Materials and methods. The retrospective analysis of 500 out-patient cards of women with sterility is lead.
Results of research. In structure of the reasons of primary sterility tubal-peritoneal sterility (45, 7%), endocrine (23, 9%) and genital endometriosis (29, 9 %) prevail; at secondary - these reasons make 54, 3%, 19 and 8, 9 % accordingly. The basic etiologic factors of female sterility are chronic inflammatory diseases of genitals, endometriosis and menstrual function disorder.

A clinical case of nocturnal frontal lobe epilepsy that is a form of focal idiopathic epilepsy with night paroxysms is presenred. A quantity of the given form observations is small. Autosomal dominant lobe epilepsy becomes the first monogenic syndrome among idiopathic partial forms in which defective gene of 20q13.2-13.3 chromosome has been carted.

Six SNP markers - DraIII, HhaI, BpmI, HphI, Fnu4HI, TaqI in the DMPK gene in healthy and myotonic dystrophy Yakuts, residing in the settlements located on the territory of the Republic of Sakha (Yakutia) were аnalysed. The population-genetics characteristic and relative risk of six locus have been studied. The relative risk for Т-allele Fnu4HI and В-allele TaqI increased significantly. The analysis groups healthy and myotonic dystrophy Yakuts were revealed the predispose roles to myotonic dystrophy h1 and h2 haplotypes. The haplotypes h4 and h5 are protective roles on the contrary. The аnalyses of linkage disequilibrium in myotonic dystrophy Yakuts were investigated. The block of adhesion in tHis group is not shown. Two short blocks in healthy group were detected.

The purpose of work was an estimation of NADPh-dependent malatdehydrogenase activity and pentose phosphate way’s work in placenta at the pregnancy complicated by an aggravation of herpetic infection. We estimated by histochemical methods work of enzymes in 26 placentae and 38 villiferous chorions, taken during medical abortions and delivery at term. Decrease in their activity is revealed at the pregnancy complicated by aggravation of herpetic infection.

The analysis of development of secondary sexual attributes in 125 girls of the Yakut nationality of pubertal age is lead. Stages of development of secondary sexual attributes depending on somatype are studied. Early development of secondary sexual attributes in girls with microsomal and micromesosomal constitutional types is revealed.

Comparative studying of antibacterial activity of mechanically modified complex connection representing a mix of 3d generation cephalosporin -cephotaxim and dextran with various molecular mass is conducted. It is revealed that, native and mechanically modified dextran of various molecular mass does not possess antibacterial activity. Mechanochemical cephotaxim updating with dextran leads to increase in antibacterial properties of the given antibiotic concerning Staphylococcus aureus and Escherichia coli.

Influence of linkage ВМ-7-02 (derivative of indole-thioalkanecarbon acid) on viability and proliferative activity of mononuclear cells of peripheral blood of donors is studied. It is revealed, that the given linkage shows antiproliferative properties concerning mononuclear cells of person peripheral blood, stimulated as Т-, and В-cellular mitogens. Antiproliferative effect of linkage ВМ-7-02 is not connected with its cytotoxic action.

It is revealed, that intragastral acidity level is prominently higher in patients with peptic ulcer of European ethnic group in comparison with group of Asian ethnicity, indepentently from localiation. In patients with peptic ulcer of Asian group, unlike European, scheme of first choice treatment must be 4-component eradicational therapy.

Medical and social research of frequency and structure of bronchopulmonary pathology in pregnant women of Krasnoyarsk city and influence of this pathology on course of pregnancy, delivery and condition of newborn child was held. Results show, that frequency of bronchopulmonary pathology in pregnant women does not exceed the populational indicators. However, pregnant women with respiratory diseases had higher level of compications of pregnancy and delivery, morbidity of newborn children also exceeds such in comparison with pregnant women who do not have bronchopulmonal pathology.