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Material of the article is devoted to the study and understanding of issues associated with the phenomena of heredity. Normal processes of functioning and distribution of genetic material at the chromosomal level of its organization contribute to the maintenance of genetic sustainability (homeostasis) in the individual development of an organism. Violations of sexual differentiation in human ontogenesis determine a wide range of pathological conditions and diseases. Their pathogenesis is realized not only at the level of morphology, but also affects the endocrine, mental processes, with which doctors of different specialities deal. Knowledge of the specificity of the hereditary material and genetic processes at the subcellular level and particularly the organization of chromosomes, their participation in storage and distribution of information is necessary for the physician to understand both the normal and pathological phenomena caused by the laws of the linked inheritance: linkage of genes, genetics of sex, linkage with sex. This knowledge is especially important in studying of medical genetics, obstetrics and gynecology as well as pediatrics. Detailed knowledge and understanding of the human genome provides an opportunity for discovering of new ways to succeed in medicine. It was showed the new prospects for understanding the mechanisms of functioning of each gene, the principles of the development of organism, the genetic causes of many hereditary diseases and mechanisms of aging. Information about the human genome will help you find the causes of such hereditary disorders such as Alzheimers disease, cancer, cystic fibrosis and many other. Understanding the disease process at the molecular level provides new opportunities for the treatment and offering of new modern therapeutic procedures.

Speech disorders still remains one of the cornerstones of pediatric neurology. Against the backdrop of gene diagnostic development, there are a huge amount of information about the role of genetic and chromosomal abnormalities in pathogenesis of speech disorders. In present article authors presenting an actual data on genetic basis of different types of speech disorders. Moreover, authors describing a clinical case of a patient with genetically determined developmental disorder, caused by KMT5B mutation validated by Sanger method.

Using polymorphism of alpha-amylase in the winter common wheat studied inheritance isoenzymes and its conjugation enzyme types with germinating grain on the "vine", grain productivity, plant height and time of ear formation. It is shown that the polymorphism isoenzyme of alpha-amylase wheat is limited by the presence of different loci whose products are similar in electrophoretic parameters. In this regard, one component of the enzyme can be controlling at one or two or three genes. Identification of a locus controlling alpha-amylase isoenzyme in the fast moving part of the electrophoretogram, designated as α-Amy-B7. Determine the distance of the locus to factor α-Amy-B6.

The problem of accounting for a genetic estimation of expected linkage in the disposition of random loci was solved for the additive-dominant model. The Comstock-Robinson estimations for the sum of squares of dominant effects, the sum of squares of additive effects, and the average degree of dominance were modified. Also, the Wright's estimation for the number of loci controlling the variation of a quantitative trait was modified and its application sphere was extended. Formulas that should eliminate linkage, on average, were derived for these estimations. Nonbiased estimations were applied to the analysis of maize data. Our result showed that the most likely cause of heterosis is dominance rather than overdominance and that the main part of the heterotic effect is provided by dozens of genes.

Autosomal microsatellites are valuable tools for investigating genetic diversity and population structure and making conservation decisions to preserve valuable breeds of domestic animals. We carried out a linkage disequilibrium analysis using 29 microsatellite markers in six cattle populations: Suksun, Istoben, Yaroslavl, Kholmogory, Grey Ukrainian and Pechora type Kholmogory breeds. We discovered a significant linkage between microsatellites INRA037 and CSRM60 in Grey Ukrainian breed.

The genetic map of chromosome 5B has been constructed by using microsatellite (SSR) analysis of 381 plants from the F2 population produced by cross of the Chinese Spring (CS) and Renan cultivars. Initially, 180 SSR markers for the common wheat 5B chromosome have been used for analysis of these cultivars. The 32 markers able to detect polymorphism between these cultivars have been located on the genetic map of chromosome 5B. Cytogenetic mapping has involved a set of CS 5B chromosome deletion lines. Totally, 51 SSR markers have been located in ten regions (deletion bins) of this chromosome by SSR analysis of these deletion lines. Five genes--TaCBFIIIc-B10, Vrn--B1, Chi--B1, Skr, and Ph1--have been integrated into the cytogenetic map of chromosome 5B using the markers either specific of or tightly linked to the genes in question. Com- parison of the genetic and cytogenetic maps suggests that recombination is suppressed in the pericentromeric region of chromosome 5B, especially in the short arm segment. The 18 markers localized to deletion bins 5BL16-0.79-1.00 and 5BL8-0.66-0.79 have been used to analyze common wheat introgression lines L842, L5366-180, L73/00i, and L21-4, carrying fragments of alien genomes in the terminal region of 5B long arm. L5366-180 and L842 lines carry a fragment of the Triticum timopheevii 5GL chromosome, while L73/00i ? L21-4 lines, a fragment of the Aegilopsspeltoides 5SL chromosome. As has been shown, the translocated fragments in these four lines are of different lengths, allowing bin 5BL18-0.66-0.79 to be divided into three shorter regions. The utility of wheat introgression lines carrying alien translocations for increasing the resolution of cytogenetic mapping is discussed.

The live attenuated influenza vaccine (LAIV) currently licensed in Russia consists of the reassortant viruses with hemagglutinin (HA) and neuraminidase (NA) gene segments from the circulating wild-type viruses and the six internal protein-encoding gene segments from cold-adapted master donor viruses (MDV) A/Leningrad/134/17/57 (H2N2) or B/USSR/60/69. Presently, only classical reassortment technique is approved for the generation of Russian LAIV strains. In this work, we describe the obstacles to the development of LAIV 6:2 vaccine strains depending on the phenotypic properties of the wild-type viruses used for reassortment. It was demonstrated that the highest percentage of 6:2 vaccine reassortants could be achieved when wild-type parental viruses were resistant to non-specific gamma-inhibitors. It was shown that it was impossible to generate 6:2 vaccine reassortants possessing six internal genes of the AILeningrad113417/57 (H2N2) master donor virus and avian HA and NA genes from H5N1-PR8 viruses using classical reassortment technique. It was suggested that strong constellation effects between the gene segments of the parental viruses could affect the virus gene reassortment. A strong interaction between the genome segments encoding neuraminidase of avian origin and PB2 gene of PR8 virus was observed. When the PB2 gene was inherited from cold-adapted master donor virus, the neuraminidase was also found to be of MDV origin.

Using polyacrylamide gel electrophoresis in the glycine-acetic acid system (pH 3.2), variants of proteins of white-lupine seeds were revealed. The study of conglutin polymorphism in the culture of the autogamous population F(--> infinity) (var. Dega) revealed two loci, Con A and Con B, which control protein synthesis. The loci were situated in the same linkage group within a distance of 11.48 +/- 3.4% of recombination. Natural selection in favor ofgenotypes that contain Con A1 Con B2 alleles is proposed. It is established that conglutins A and B (CON A and CON B) contain cysteine residues, which form intermolecular disulfide bonds between peptides.

alpha-Amylase isozymes were detected via electrophoretic separation in a Tris-glycine polyacrylamide gel system (pH 8.4). Three chromosome 6B loci controlling the alpha-amylase isozyme composition were identified by studying the grain alpha-amylase patterns in an F --> infinity self-pollinating population of winter common wheat (Donskoi Mayak). The loci were found to take the following order in the long arm of chromosome 6B: cen.-alpha-Amy-B3-alpha-Amy-B6-alpha-Amy-B1-.

The effect of selection for radius vein length on the distribution of hybridization sites of the P and hobo transposons and the mdgl and mdg2 retrotransposons on polytene chromosomes of Drosophila melanogaster salivary glands was studied. The patterns of these transposable elements (TEs) distribution were polymorphic in both the parental strain and selected strains. The similarity in mdg1 and mdg2 patterns between strains selected in one direction was closer than between strains selected in opposite directions, but the selected strains were closer to each other than to the parental strain regardless of selection direction. No mdg2 hybridization sites that would be absent in the control were found in the selected strains. There were more mdg2 and hobo hybridization sites in the strains selected in the (+) direction than in the (-) direction. The mobility of hobo copies in the strains studied correlated with the presence of its full-sized copy in the genome. The polymorphism of all TEs studied except for mdgl was greater for strains selected in the (+) direction that in the (-) direction. These facts suggest that some TEs migrate over the genome independently of selection, and others are markers of evolutionary events rather than their causes.

We conducted a genome-wide linkage scan in two extended pedigrees ascertained from two Dagestan genetic isolates (N(o)6007 and 6008) with high aggregation of early onset major depressive disorders (MDD). The first pedigree included in total 22 cases of MDD (15 available) and 11 suicides; the second pedigree contained 29 MDD cases (23 available) and 12 suicides. Five linked regions in our study are consistent with previous findings in association and/or linkage studies with MDD: 11p15, 12q23-24, 13q11-32, 18q22 and 22q11-13. We found two novel for early onset MDD genomic regions with significant linkages in N(o)6007 with Lods = 3.1-3.4 at 2p13.2-p11.2 (and some weak signal in the same region for N(o)6008) and at 14q31.12-q32.13. We also obtained suggestive level linkages at 9q33.3-q34.2 (N(o)6008), 13q31.1-q31.2 (N(o)6007), 11p15 (N(o)6008), 17q25.3 (N(o)6007) and 19q13.31-q13.33 (N(o)6008). Six linked regions (1p36.1-p35.2, 2p13.2-p11.2,13q31, 17q25.3, 18q22 and 22q12.3) were consistent across the two isolates' pedigrees while all other linkage regions (5q14.1-q14.3, 9q33.3-q34.2, 13q31.1-q32.1, 14q31.12-q32.13, 20p13) demonstrated population-specific genetic heterogeneity of MDD. Our results suggest that genetic mapping of complex diseases, including MDD, across genetically homogeneous isolates can enrich the harvest of linkage signals and expedite the search for susceptibility genes.

Segregation analysis was performed in the progenies obtained in analyzing crosses of hybrids of spring and winter accessions of rye Secale cereale L. and wild S. montanum subsp. anatolicum (Grossh.) Tzvel. (syn. S. strictum (J. Presl) J. Presl). The test genes controlled the brittle stem (bs), the allelic variants of aromatic alcohol dehydrogenase (Aadh 1) and shikimate dehydrogenase (Skdh), and the growth habit (Vrn 1). A linkage was observed in the inheritance of the brittle stem and the aromatic alcohol dehydrogenase and shikimate dehydrogenase alloenzymes. The order of genes was established to be bs-Skdh-Aadh 1, and the genetic distances were estimated to be bs-(9.0%)-Skdh, bs-(10.8%)-Aadh 1, and Skdh-(5.3%)-Aadh 1. The recombination coefficient between the Skdh and Aadh 1 genes varied from 2.2 to 18.2%, averaging 5.3%. The growth habit was inherited independently of the bs-Skdh-Aadh 1 linkage group.

In order to localize chicken genes and microsatellites we used two-color FISH and chicken chromosome specific BAC-clones. All BAC-clones were verified by PCR. Analysis of the results obtained showed that: maf gene formed one linkage group with mc1r gene (CJA11), aldhlal--with igvps gene (CJA15), pno--with acaca gene (CJA19), fzf--with bmp7 gene (CJA20), cw01--with ubapw2omega gene (CJAW). Microsatellite ADL0254 was localized jointly with insr gene (CJA28), while LE10342 and MCW0330 microsatellites--with hspa5 gene (CJA17). The same work was fulfilled on chicken mitotic chromosomes. We obtained other results. maf gene was localized independently of mc1r (GGA11), aldh1a1 was localized independently of igvps gene (GGA15), and pno gene (GGA19) was localized independently of acaca gene. ADL0254 and LE10342 microsatellites had two sites of localization (GGA28, GGA17 accordingly and other site). Localization for genes cw01 and fzf and for MCW0330 microsatellite was confirmed.

Different approaches to calculation of the power in linkage analysis whose efficiencies have been demonstrated in small pedigrees are described. The possibility of applying them to large pedigrees has been estimated. Equivalence of the analytical estimates of power obtained using different approaches based on analysis of individual pairs of relatives has been shown. The accuracy of the resultant analytical estimation of the power has been analyzed for three large pedigrees and a wide range of inheritance models; the accuracy has been demonstrated to be sufficiently high and equal to the accuracy in the case of small pedigrees.

Mutation Y168H of the human phenylalanine hydroxylase (PAH) gene determining phenylketonuria was described only twice: in a patient from Catalonia (Spain) and by us in a patient from Western Siberia (Russia). The association of Y168H in these families with allelic variants of STR and VNTR repeats and a number of neutral point polymorphisms of the PHA gene (IVS3nt-22C > T, Q232Q, V245V, L385L) was studied in this work. The Y186H mutation in these families was found to be associated with different haplotypes. Strong linkage of the selected markers and the mutation region excludes recombination as a possible cause of association of Y168H with different haplotypes. It was concluded that Y168H occurred independently in different populations.

The inheritance and manifestation of fasciation character in three fasciated lines of common pea Pisum sativum L. were investigated. All studied forms are characterized by abnormal enlargement of stem apical meristem leading to distortions in shoot structure. It was estimated that fasciation in mutant Shtambovyi is connected with recessive mutation in gene FAS, which was localized in linkage group III using morphological and molecular markers. It was demonstrated that fasciation in cultivar Rosacrone and line Lupinoid is caused by recessive mutation of the same gene (FA). The peculiar architecture of inflorescence in the Lupinoid line is a result of interaction of two recessive mutations (det fa). Investigation of interaction of mutations fa and fas revealed that genes FA and FAS control consequential stages of apical meristem specialization. Data on incomplete penetrance and varying expressivity were confirmed for the mutant allele fa studied.

To map human chromosome 2 region associated with type 1 diabetes mellitus, 89 families with concordant and discordant sib pairs were analyzed. Linkage and association with type 1 diabetes were examined using polymorphic microsatellite markers spanning the region of about 4 Mb. The linkage plot was constructed, and association of the five microsatellite markers within the chromosomal region 2q35 was examined. Polymorphic marker D2S137 (Z' = 3.225, p(c) = 0.0048) demonstrated maximum linkage and association with type 1 diabetes.

The polymorphism of leucine aminopeptidase in 23 inbred lines of sunflower of mutant origin was studied. The isozyme spectrum of leucine aminopeptidase is presented as a single zone of enzyme activity controlled by one gene. This gene was shown to be inherited independently from genes of esterase and 6-phosphogluconate dehydrogenase.

Frequencies of the CIT SNP alleles at position 2403 of the human coagulation factor VIII gene intron 1, containing the AluI restriction endonuclease recognition site, were examined. Genomic DNA samples for the analysis were obtained from the consulted women and their relatives from the families with hemophilia A. A total of 221 unrelated X chromosomes were studied. The two allelic variants were found with similar frequencies of T(Alu+), 0.53 and C(Alu-), 0.47. The heterozygosity index evaluated as equal to 0.50 was correlated with the experimental heterozygote number. The absence of a tight linkage between the AluI SNP and the widely used in the hemophilia A gene diagnostics HindIII polymorphism (CIT SNP at position 103 of intron 19) was demonstrated. Summarized informativity of these two markers for obligate carriers and for those detected in this study constituted 68% (32 out of 47). At the same time using one of the markers, only 40% (HindIII) and 51% (AluI) of the consulted women were informative. The new marker was used in 13 prenatal DNA diagnostics of hemophilia A. A new deletion polymorphism (del TGA, position 2281-2283 of intron 1) was described in close proximity of the AluI SNP with the frequency of about 0.05. among the five other SNP of the factor VIII gene examined (Bme 18I, intron 1; HpaII, intron 13; MnlI, exon 14; Bst4CI, exon 25; and MseI, exon 26) no effective diagnostic markers were found. Only the MnlI polymorphism could be recommended for limited usage.

The authors have examined immunogenetically 136 children of east slavonic nationality aged 5-15 years with different forms of congenital obstructive uropathy. Positive and negative association was found of some HLA antigenes, their phenotypical combinations and haplotypical combinations with diseases in the group of patients with congenital obstructive uropathies and in patients with obstructive pyelonephritis. Different immunogenetic picture was seen in patients with congenital hydronephrosis and in children with pyeloectosy. Different distribution of immunogenetic markers can be used for differential diagnosis, definition of the risk of progression of hydronephrotic transformation, complication of obstructive pathology with secondary infectious process and objective validation of therapeutic policy in children with congenital obstructive uropathy.

A method is proposed for analysis of quantitative traits in animal hybrid pedigrees formed by crosses between outbred lines differing in allele frequencies of the genes controlling the trait studied. The method is based on the decomposition of trait variances into components and uses maximization of the likelihood function for estimating model parameters, which allows the estimation of additive and dominance effects of the gene involved in trait determination and its allele frequencies, as well as determination of the chromosomal position of this gene relative to genotyped markers. To test the linkage of this gene with markers, a statistic with the noncentral chi(2) distribution has been chosen. Analytical expressions for the power of this method have been derived. The method has been tested on small model hybrid pedigrees. Phenotypic values of the trait and information on marker genotypes for each individual in hybrid pedigrees are original data for the analysis of a quantitative trait.

Variation and divergence patterns of the multilocus genome markers in twelve Chironomus species belonging to the plumosus and piger sibling-species groups were examined by use of polymerase chain reaction with random primers (RAPD method). The chironomid species showed high levels of the RAPD markers polymorphism. The genetic distances (GD) were determined between the species within the group of closely related species, as well as between the species from different groups. The estimates obtained characterized the divergence levels between the sibling species (GD = 0.739) and morphologically distinct species (GD = 0.935). Comparison of the variation and divergence levels of the RAPD markers with those for the other genome markers, namely, the enzyme-coding genes and chromosomes (gene linkage groups) have demonstrated different divergence rates for different genome components during speciation of Chironimids.

Bulked segregant analysis and amplification of RTS loci were used for searching of DNA-markers to Or 3 gene that controls resistance of sunflower to broomrape. Polymorphic amplifyed fragments have been discovered which differentiate resistant and non-resistant parental lines and F2 plants. Linkage between codominant marker and locus Or 3 is defined.

Alleles and genotypes of polymorphic markers of paraoxonase 1 and paraoxonase 2 genes (PON1 and PON2) encoding enzymes of the body antioxidative defense were compared in type 1 diabetes mellitus patients with or without diabetic nephropathy. The patients with nonoverlapping ("polar") phenotypes constituted different groups. The first group contained patients with diabetic nephropathy (DN+, n = 62), clinical proteinuria (albuminuria above 300 mg per day), and at least 15-year disease duration. In control group, the patients had no diabetic nephropathy (DN-, n = 68), their albuminuria was below 200 mg per day, and disease duration was at least 20 years. Comparative analysis with exact Fisher's test revealed no significant differences in frequencies of alleles and genotypes of the PON1 gene polymorphic marker Gln192Arg and of PON2 gene polymorphic markers Ala148Gly and Cys311Ser. Our results suggest that the polymorphic markers studied are not associated with diabetic nephropathy among Russian patients in Moscow.

Investigated within the case study are parameters of disbalance of lineage (HC) for 4 micro-satellite locuses of human genome: LPL, CD4, vWA and vWFII. The above locuses are widely used, both in Russia and abroad, in molecular-genetic applications for personality identification. Meanwhile, according to cytogenetics criteria, CD4, vWA and vWFII, are located close to each other in the telomeric region 12pter-12p12 in the short chromosome 12 arm, therefore their potential genetic interdependence is still a topical issue. We found a reliable HC between locuses vWA and vWFII. Locus CD4 did not display HC with locuses vWA and vWFII or with locus LPL. The latter, which is located in chromosome 8 and which must have been negative control for HC, was shown to have no HC with any of the studied markers. Such results correlate well with data on the relative physical localization of CD4, vWA, vWFII and LPL. Multiplication of frequency of alleles (genotypes) is not acceptable in typing locuses vWA and vWFII within one multi-locus panel due to the genetic linkage of these markers demonstrated within the present case study, which is an important practical conclusion.

Data on linkage of 12 rye genes controlling morphological traits (el, Vs, ln, w, np, ct2, Hs, Ddw, cb, mn, vil, mp) with one or several isozyme markers of individual rye chromosomes (2R-7R) are presented. Linkage of the following gene pairs was established: chromosome 2R: Est3/5-el, el-beta-Glu, Sod2-el, Sod2-Vs; chromosome 3R: ln-Got4; chromosome 4R: w-Got1, np-Got1; chromosome 5R: Est4-ct2, Est6/9-ct2, ct2-Est2, ct2-Aco2, Est2-Hs, Aco2-Hs, Est2-Ddw, Aco2-Ddw; chromosome 6R: Lap2-cb, cb-Aco1, Est10-mn; chromosome 7R: Acph2/3-vi1, Got2-vi1, mp-Acph2/3. The reasons for mapping a very small number of genes in rye in spite of high intraspecific variability of this species are discussed. An approach is suggested to improve this situation by simultaneous identification and mapping of all diverse spontaneous mutations maintained in heterozygous state in various rye cultivars.

Extensive clinical data (595 patients) were made use of to work out a clinical classification and to isolate 2 groups of patients, i.e. one with primary retinoschisis and the other with secondary retinoschisis. According to etiopathogenesis, primary retinoschisis is subdivided into the inherited (congenital) variation and the acquired one. Congenital retinoschisis comprises, in its turn, juvenile and linked with X-chromosome variants as well as retinoschisis observed in Goldman-Favre and Wagner syndromes. The group of acquired retinoschisis is made up of degenerative (senile) and myopic variants, which are triggered by the typical or cystic peripheral retinal degeneration. Secondary retinoschisis is observed in different eye diseases like trauma, diabetes, uveitis, angiomatosis etc. The central, peripheral and combined retinoschisis variations are distinguished according to localization; two variations are distinguished according to the disease clinical course, i.e. stationary with demarcation and complicated progressing without demarcation and with uneven borders. The study results show that retinoschisis of any variation begins at the extreme periphery; lamination of the flat type develops primarily in the lower-external quadrant and the one of the bullous type--in the upper-external quadrant.

In ethnic Russians, MHC (HLA) was shown to be the major locus determining the predisposition to type 1 diabetes mellitus (T1DM). To map the regions linked to T1DM, families with concordant or discordant sib pairs were selected from the Russian population of Moscow. With these families, linkage to T1DM was demonstrated for CTLA4 (IDDM12, 2q32.1-q33), which codes for a T-cell surface antigen, and PDCD2 (IDDM8, 6q25-q27), which is homologous to the mouse programmed cell death activator gene. With polymorphic microsatellites, regions 3q21-q25 (IDDM9) and 10p12.2 (IDDM10) were also linked to T1DM. Case/control and family studies of the polymorphic markers from region 11p13 revealed a new T1DM-associated locus in the vicinity of the catalase gene (CAT); linkage to this locus was not reported earlier for other populations. Diabetic polyneuropathy (DPN) proved to be associated with single-nucleotide polymorphisms Ala(-9)Val (SOD2), Arg213Gly (SOD3), and T(-262)C (CAT) and with a polymorphic microsatellite of the NOS2 promoter. Hence oxidative stress, which results from hyperglycemia, increased mitochondrial production of superoxide radicals, and insufficient activities of antioxidative enzymes, was assumed to play an important part in DPN development in T1DM. Diabetic nephropathy (DN) showed no association with the antioxidative enzyme genes. However, the association was observed for the insertion/deletion (I/D) polymorphism of ACE and the ecNOS34a/4b polymorphism of NOS3, two genes involved in controlling vascular tonicity, and for the I/D polymorphism of APOB and the epsilon 2/epsilon 3/epsilon 4 polymorphism of APOE, two genes involved in lipid transport. In addition, polymorphic microsatellites of chromosome 3q21-q25 proved to be closely associated with DN. The tightest association was established for D3S1550, carriers of allele 12 or genotype 12/14 having high risk of DN (OR = 4.85 and 6.25, respectively). Region 3q21-q25 was assumed to contain a major gene determining DN development, while the other DN-associated genes mostly affect the progression of DN.

Summarized data of medical genetic survey of the population of Republic of Sakha (Yakutia) are presented. The number of the population examined constituted 1000700 individuals (including 424500000 of urban and 576,200 of rural population, respectively). Regarding the ethnicity, 33 regions of the Republic examined were at most inhabited by Yakuts (36%) and Russians (55%). A total of 400 families (606 patients) with autosomal dominant, 274 families (369 patients) with autosomal recessive, and 42 families (53 patients) with X-linked pathologies were detected. The segregation analysis performed showed good correlation with the expected type of inheritance for both dominant and recessive diseases. The prevalence rate of monogenic hereditary diseases for rural and urban populations, as well as for solely Yakuts, was calculated. It was shown that weighted average prevalence of dominant (0.68; 1.44) and recessive (0.43; 0.86) disorders in Yakuts was two times higher than in total population examined.

In Polydora brevipalpa (Polychaeta, Spionidae), an unusual electrophoretic pattern of glucose-6-phosphate isomerase (GPI) which is determined by a single GPI gene locus and represented by two isozymes (GPI-1 and GPI-2) has been revealed. The anode isozyme (GPI-1) was detected in both males and females, whereas the cathode enzyme GPI-2 appears in males and results from alternative splicing of the pre-mRNA transcripts. In males, GPI-2 was shown to express only in sperm. The results obtained suggest that the genes responsible for sex determination and expression of the alternative isozyme GPI-2 are tightly linked. However, rare recombination events between these genes produce reciprocal deviant GPI phenotypes in males (GPI-2 is absent) and females (GPI-2 is present). In the sample of 376 individuals (202 males and 174 females) six recombinant males and six recombinant females were found, which ratio is in good agreement with the expected 1:1 ratio. Recombinant males of different genotypes at the GPI locus were also found. This indicates the absence of negative selection against all genotypes of the locus, except those carrying the unique allele that controls the cathode allozyme GPI-1. The results obtained suggest genetic sex determination in P. brevipalpa. Based on the fact that genetic sex determination is also characteristic of other species of the genus Polydora, which diverged independently during several million years, and taking into account that only six recombination events occurred in the history of 376 P. brevipalpa genomes examined, the conclusion is made that the gene responsible for sex determination and that responsible for the expression of the alternative GPI-2 isozyme are tightly linked.

The use of polymorphic microsatellite markers for mapping alternatively distributed behavioral traits with incomplete penetrance was studied with special reference to inheritance of predisposition to catalepsy in mice. Using only backcrosses as a segregating population, the major gene for catalepsy was with high likelihood mapped to region 30-75 cM of murine chromosome 13. It was also established that this gene determines 20% of the trait penetrance whereas the remaining 31% of the observed penetrance are accounted for by numerous polygenes.

A brief review of theoretical and practical results of investigation of genetical control of a number of traits of beet, including self-incompatibility, monogerm-multigerm, cytoplasmic male sterility and some others is presented. Data concerning linkage groups of individual genes, determining morphological and biochemical traits are demonstrated.

Genetic analysis has demonstrated that meiotic mutations mei8 (irregular condensation and fragmentation of meiotic chromosomes) and mei10 (chromosome overcompaction) are nonallelic. Mutation mei10 exhibits digenic inheritance (with a segregation ratio of 13:3) in the combinations of crosses studied. It is assumed that the phenotypic expression of mutation mei10 is suppressed by the effect of recessive gene lch1 or lch2 (long chromosomes), both of which have been revealed in one of the parental lines (Mc10). These genes determine weak condensation of meiotic chromosomes. In double mutants mei8 mei10, the mutations are expressed independently of each other. Gene mei10 is linked with gene mei8 (r = 36.8 +/- 5.38%); genes lch1 and lch2 are not linked either with them or with each other. Taking into account the data on the linkage between genes mei10 and sy10 and between mei8 and sy10, the order of genes in the linkage group is shown to the following: mei8-sy10-mei10.

Rheumatoid arthritis belongs to the group of autoimmune multifactor diseases with an essential involvement of genetic components in its genesis. The HLA DRB1* polymorphism was studied in 68 RA patients and in their 75 healthy relatives. 135 blood donors, who were tested at the Institute for Immunology of the Ministry of Health, Russian Federation, Moscow, were in the control group. The carrier-state of the HLA DRB1* 04 gene contributes to a higher probability of RA onset by 8.5 times, while the presence, in genotype, of genes HLADRB1* 02, 05, 06 reduces the risk of RA by 2.1, 2.3 and 7.2 times, respectively. Allele *0401 is encountered reliably more often in RA patients versus healthy controls. Within a sample of patients with familial RA, 43.9% turned out to be the carriers with various combinations of two alleles of genes coding the conservative amine acids of sequences QKRAA or QRRAA, which were named "shared epitope" (SE), versus 5.1% among the controls. The presence of homozygous "SE genotypes" among the RA patients contributed to a higher risk of morbidity by 5.8 times, while the carrier state of haplotypes with "duel SE positivity" enhanced the risk of morbidity by 17.8 times mainly due to the 01/0401 halotype. The RA linkage with two intragenic DNA markers, i.e. with the polymorphous micro-satellite replication of gene TCRA (CA)n and with the point-type changeability (localized in the coding area of the second variable region of V2 TCRD gene), was analyzed. The maximal possible value of the lod-point for (CA)n, i.e. replication of TCRA gene, was equal to +1.30 in males under the condition of zero recombination frequency, and to 16% of frequency recombination in females. The maximal possible value of the lod-point for the point-type changeability of gene TCRD was equal to +0.70 in males under the conditions of zero frequency recombination and to 40% of frequency recombination in females. The maximal lod-point value amounting to +1.20 in males and females in an identical frequency recombination of 5% was found on the basis of a three-point analysis of the linkage between RA and two intragenic markers from gene clusters coding the alpha- and beta-chains of T-cellular receptors. Therefore, our familial data are indicative of the opportunity of localizing the gene predisposed to RA is at a distance of 5 cM, in the direction of the telomere, from the locus of the examined (CA)n, i.e. replication of gene TCRA.

X-linked adrenoleukodystrophy (X-ALD) is a relatively common world spread disease characterized by significant clinical heterogeneity. Clinico-biochemical examination in the Medico-genetic research center identified, 20 X-ALD cases in 17 families over 5 years. Prevalence of children (60%) and adolescence (25%) cerebral forms is explained, in part, by patients referring for medical-genetic counseling. Adrenomyeloneuropathy was diagnosed in one patient. In two healthy siblings presymptomatic stage was found. A main X-ALD biochemical marker is an increase of very long chain fatty acids (VLCFA) level, which does not depend on clinical form of the disease. Most interesting appeared to be a family including 5 patients in 3 generations with intrafamilial combination of childhood and adolescence cerebral forms, and atypically mild disease course in proband. Regarding symptoms of childhood and adolescence cerebral forms, attention has been drawn to 3 patients with tics, which mask organic nature of the disease on its initial stage. X-ALD is so far incurable, but its timely diagnosis provides an adequate medico-genetic help on the base of modern prenatal diagnosis.

Distribution of the X-linked androgen receptor gene (AR) alleles with different number of CAG repeat units in the first exon was analyzed in spontaneous abortuses having the 46,XX karyotype. The increased frequency of alleles with low number of trinucleotide repeat units in these specimens compared to adult healthy women was revealed. For more detailed analysis, all AR alleles were grouped into three classes: A, with a low CAG repeat number (21 to 23); B, with a moderate repeat number (24 to 28); and C, with a high maximum repeat number (29 to 32). Statistically significant among-sample differences in the frequencies of AA genotypes, which prevailed in spontaneous abortuses, were revealed. The samples tested were also different by the mean squared distance between the AR allele lengths, which constituted 81.8 +/- 0.4 and 53.2 +/- 0.5 in healthy women and spontaneous abortuses, respectively. Based on the data on inverse correlation between the length of the CAG repeat sequence and transcriptional activity of the androgen receptor gene, a hypothesis on selection against female individuals with the small number of CAG repeats in the AR gene and high transcriptional activity of this locus in prenatal period of human ontogeny is advanced.

Familial sensomotor neuropathy (FSMNX1) is reported to contribute significantly to FSMN spectrum. FSMNX1 is referred to FSMN type I but in respect to several signs is regarded as an intermediate one between type I and type II. A family including 26 patients in 5 generations has been described, 14 patients being examined in the study. Molecular genetic investigation showed that the disease was determined by mutation in connecsin gene 32 (Cx32). The mutation described is represented by a single nucleotide substitution 68T > C in codon 23 (GTA > GCA). A large proportion of presubclinical cases, preferentially in women, have been found in the family, that is in line with a type of inheritance. Substantial interfamilial disease polymorphism, especially by an age of onset, and symptoms rare for FSMN have been showed as well. Literature data on clinical genealogical, electrophysiological and molecular-genetic characteristics of FSMNX1 are analyzed comparing with own observations. Practical aspects of FSMNX1 diagnosis using DNA are discussed.

A linkage group of the gene responsible for changes of DA titer under stress in adults of D. virilis was determined. Line 160 of D. virilis, all autosomes of which bear visible recessive mutations, was used as an analyzer. Flies of lines 160 and 147 were shown to differ in DA content under normal conditions and in the way DA metabolic system reacts to stress. Among the offspring of the analyzing cross, groups of flies were found with one testable autosome from line 147 and all other chromosomes from line 160. Results of the DA titer measurements in flies of these groups under stress conditions have proved that the gene in question is linked to chromosome 6.

Clinical manifestations and course of bullous X-linked congenital retinoschisis were studied in 10 infants aged 6-18 months. Visual function was evaluated by registration of electroretinogram and visual evoked potentials. The patients were followed up for 7.65 +/- 2.51 years. Giant retinal cysts were observed in 40% patients with X-linked retinoschisis aged under 3 years. Collapse (spontaneous or after laser coagulation of the retina) of retinal cysts with formation of demarcation pigmented lines was observed in 85% children. Twenty percent patients developed hemophthalmia which was completely resorbed within 4-12 months. At the age of 6-12 years visual acuity was 0.36 +/- 0.23. The prognosis of the condition is favorable, and therefore surgical treatment or laser coagulation are not recommended in infants with bullous retinoschisis, on condition that no negative changes in the disease course are observed.

Lac+ type- S. flexneri 1298 1a and S. flexneri 1338 1b hybrids has been obtained in the crosses of Shigella strains with Escherichia coli K-12 Hfr C. The detection of in vitro survive of the bacteria of genetically linked pair strains, differing in type specific antigen synthesis is presented. The more sensitive of lac+ type- hybrids to the treatment by hydrogen peroxide of concentration 205 mM in comparison with the parent S. flexneri strains possesses the type specific antigen synthesis was shown.

Polymorphism of rec genes, modifier genes of recombination frequency (rf), was analyzed. Genetic population analysis was used to estimate the efficiency of some schemes of direct and indirect selection for higher rf in a marked chromosomal region. A new modification of the cyclic selection scheme, based on selection of double recombinant marker genotypes in the offspring of self-fertilized plants, was found to be most effective in many cases. This indirect selection scheme was studied in more detail using deterministic and stochastic computer simulation. Effects of various factors on the efficiency of the modified scheme were analyzed. These factors were different degrees of cross-fertilization, differential adaptation of recombinant and non-recombinant gametes and zygotes, linkage between marker genes and rec genes, and environmental variation of rf. Sample sizes and the number of crosses required for a stable rf increase in experiment were estimated. Statistical properties of two new modified tests for comparison of rf values were studied. An experiment with marker forms of tomato were conducted taking into account the recommendations following from the results of simulation.

Association between the RAPD markers and the resistance to race 4 of the black rot causative agent was studied in Brassica rapa L. Experiments were carried out using doubled haploid lines, obtained via crosses between the race 4-susceptible fodder turnip and resistant pak-choi, and the F2 progeny of the crosses between the doubled haploid lines with contrasting resistance. The WE(22)980 RAPD marker inherited from the pak-choi and associated with the clubroot susceptibility was also linked to the locus responsible for the resistance to race 4 of Xanthomonas campestris pv. campestris. The two other RAPD markers were linked to susceptibility to black rot. Simultaneous association of the same DNA markers with the resistance/susceptibility to two different obligate pathogens favored the hypothesis on cluster organization of the resistance genes in plants. The markers described can be used in plant breeding and in further investigation of the genetic bases of resistance in plants.

The search for STS (sequence-tagged site) and RAPD (random amplified polymorphic DNA) markers tightly linked to some genes of homeologous group 5 chromosomes of common wheat Triticum aestivum L., more specifically, awns inhibitor genes (B1), vernalization response gene (Vrn1), and homeologous chromosome pairing gene (Ph1), was conducted. To estimate the linkage of the gene with the marker, wheat lines marked with recessive alleles b1 and vrn1 were used. RELP (restriction fragment length polymorphism) and SSR (simple sequence repeat) analyses of isogenic wheat lines were conducted to characterize the chromosomal region transferred to the isogenic line from the donor parent. In RAPD analysis of isogenic wheat lines marked with recessive alleles b1 and vrn1, 95 arbitrary primers were used. To develop STS markers, analysis of the primary structure of RELP markers Xpsr426 and Xcdo504, tightly linked to the Vrn1 gene, and the Xpsr1201 marker, located at the Ph1 locus, was carried out. Two markers that are tightly linked to the Vrn1 gene (5AL)--RAPD marker Xr405 and STS marker Xsts426--were obtained in this work. In addition, there is every reason to believe that Xsts426 can be used as a PCR marker of genes Vrn2 (5BL) and Vrn3 (5DL), while Xsts1201, of the gene Ph1 (5BL).

DNA polymorphism was studied in the human diallelic loci MET and D7S23 linked to the cystic fibrosis gene, diallelic locus PAH (the phenylketonuria gene), polyallelic locus ApoB, and hypervariable DNA sequences identified by means of DNA fingerprinting with phage M13 DNA as a probe. The obtained data were used to calculate genetic distances and perform taxonomic analysis of populations of the Volga-Ural region (Turkic and Finno-Ugric ethnic groups). The DNA polymorphic systems studied were demonstrated to be highly informative; their advantages and disadvantages were revealed. According to the data obtained, the genetic distances that were calculated from DNA fingerprints more adequately reflected the genetic relationships between the populations studied than the distances calculated from the allelic frequencies of four DNA loci. It was also found that, in population studies, it would suffice to analyze only the 3.5-6 kb fingerprint fragment that is most suitable for reading, rather than the entire fingerprint obtained.