RESUMEN
Authors performed investigation on "antigen-antibody" interaction of chicken infectious bronchitis coronavirus (IBV) by a method based on the surface plasmon resonance (SPR). Presence of space-size effect related to a difference between antigen and antibody particle sizes has been theoretically grounded and experimentally proven. Herewith, the difference between responses of the SPR-sensor to specific and non-specific interactions is considerably less (up to 6.3 times) than the expected one (8 - 11 times). An impact of functionalization of sensor's sensitive element surface, as well as acidity of buffer solution on the activity of antigen-antibody interaction was studied here. The difference between sensor's responses to specific and non-specific interactions increased two-fold from 200 to 432ang sec due to this treatment. When changing the acidity of analyzed solution from pH7.3 to pH6.8, the corresponding difference between sensor's responses increased by 6.3 times from 194 up to 1235ang.sec. Thus, an impact of space-size effect on interaction between IBV antigen and specific antibody can be considerably (almost in 3 times) decreased by reducing the acidity of used buffer solution. The results of our investigation can be successfully applied to develop new methods for detection of pathogens and specific antibodies using SPR.
Asunto(s)
Infecciones por Coronavirus , Virus de la Bronquitis Infecciosa , Animales , Anticuerpos , Pollos , Infecciones por Coronavirus/veterinaria , Resonancia por Plasmón de SuperficieRESUMEN
It was shown that some mutations in a number of zinc finger protein (Znf) genes cause intellectual disability (ID). In our study in two affected siblings with ID exome analysis revealed the homozygous coding sequence (cds) indel rs386809049 in the ZNF527 gene. The c.806_808 deletion CAT and insertion TGTGCA (rs386809049) results in substitution of Pro269 and Tyr270 to Leu, Cys and Asn, located in the interdomain region of Zinc finger protein 527. The analyses of site orthologs revealed that Pro269 and Tyr270 amino acid positions are conserved across mammalian species, indicating that there may be an evolutionarily conserved function. To evaluate the ZNF527 gene involvement in intellectual disability pathogenesis analysis of rs386809049 polymorphism in 300 individuals from general population of Ukraine was performed. The following genotypes distribution was detected: CAT/CAT (67.7%), CAT/TGTGCA (31%) and TGTGCA/TGTGCA (1.3%). As far as we know this is the flirt published data on rs386809049 distribution in the populations. The ZNFS27 TGTGCA (polymorphic) allele frequency was 16.8% and CAT(wild type)--83.2% in the general population of Ukraine. Such a high polymorphic allele frequency allows us to suggest that analyzed rs386809049 polymorphism in ZNF527 gene cannot be the major cause of intellectual disability.
Asunto(s)
Frecuencia de los Genes , Mutación INDEL , Discapacidad Intelectual/genética , Factores de Transcripción de Tipo Kruppel/genética , Polimorfismo Genético , Dedos de Zinc/genética , Alelos , Secuencia de Aminoácidos , Sustitución de Aminoácidos , Secuencia de Bases , Secuencia Conservada , Análisis Mutacional de ADN , Femenino , Genotipo , Heterocigoto , Homocigoto , Humanos , Masculino , Datos de Secuencia Molecular , Estructura Terciaria de Proteína , Alineación de Secuencia , Hermanos , UcraniaRESUMEN
The comparative analysis of the associations between G20210A polymorphism of F2 gene, G1691A polymorphism of F5 gene, -5T/C polymorphism of gene GP1BA, I/D polymorphism of gene ACE and the risk of development of the stroke in two ethnical samplings--Russian and Ukrainian populations--was conducted. It was shown that the patients of the Russian population with genotype DD have a higher level of the risk of ischemic stroke development (OR = 1.4, 95% CI [1.05; 1.78], p = 0.02), whereas genotypes I/I and I/D are associated with the lower level of risk of ischemic stroke (OR = 0.7, 95% CI [0.56; 0.95], p = 0.02). In the Ukrainian ethnical sampling, differences in distribution of genotypes and alleles frequencies between patients with stroke and healthy persons upon given polymorphic locus are not significant, and I/D polymorphism of gene ACE is not associated with the risk of development of the stroke (OR = 0.8, 95% CI [0.48; 1.32], p = 0.45). The G20210A polymorphism of gene F2, G1691A polymorphism of gene F5, -5T/C polymorphism of gene GP1BA are not associated with the risk of stroke in two ethnical samplings.
Asunto(s)
Factor V/genética , Glicoproteínas de Membrana/genética , Peptidil-Dipeptidasa A/genética , Polimorfismo Genético , Protrombina/genética , Adulto , Anciano , Isquemia Encefálica/genética , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genética de Población , Humanos , Masculino , Persona de Mediana Edad , Complejo GPIb-IX de Glicoproteína Plaquetaria , Federación de Rusia , Accidente Cerebrovascular/genética , Ucrania , Población Blanca/genéticaRESUMEN
In this study analysis of single nucleotide polymorhisms A351G, C397T and number of TA-repeats in ESR1 gene among 199 healthy volunteers from Ukraine was performed. Data concerning genotypes and particular alleles of polymorphic variants distribution were obtained. Possible mechanisms of these polymorphic variants role in ESR1 gene transcription and estrogen receptor expression changes are being discussed.
Asunto(s)
Receptor alfa de Estrógeno/genética , Polimorfismo Genético , Adulto , Alelos , Secuencia de Bases , Repeticiones de Dinucleótido , Femenino , Expresión Génica , Frecuencia de los Genes , Genética de Población , Genotipo , Humanos , Intrones , Masculino , Datos de Secuencia Molecular , Regiones Promotoras Genéticas , Transcripción Genética , UcraniaRESUMEN
The results of clinical, genealogical, cytogenetic and molecular genetic studies of 113 patients from 96 families with different forms of mental retardation from Ukraine are presented. This study was held as part of the CHERISH project of the 7-th Framework Program. The aim of the project is to improve diagnostics of mental retardation in children in Eastern Europe and Central Asia through detailed analysis of known chromosomal and gene's aberrations and to find the new gene-candidates that cause mental retardation. All patients have normal chromosome number (46XY or 46XX). The cases with fragile-X syndrome were eliminated using molecular genetic methods. Genome rearrangements were found among 28 patients using cytogenetic analysis, multiplex ligation-dependent probe amplification (MLPA analysis) ofsubtelomeric regions and array-based comparative genomic hybridisation (array CGH screening). In 10 cases known pathogenic CNV's were identified, 11 cases are unknown aberrations; their pathogenicity is being determined. The rest cases are known nonpathogenic gene rearrangements. Obtained results show the strong genetic heterogeneity of hereditary forms of mental retardation. The further studies will allow to identificate genes candidates and certain mutations in these genes that may be associated with this pathology.
Asunto(s)
Aberraciones Cromosómicas , Eliminación de Gen , Discapacidad Intelectual/genética , Genoma , Humanos , Discapacidad Intelectual/epidemiología , Análisis de Secuencia de ADN , Ucrania/epidemiologíaRESUMEN
The frequency of heterozygote carriers of (risk zone, alleles of FMR1 gene (40-47 CGG-repeats) was significantly higher in group of patients with ovarian dysfunction than in control group I. The tendency for higher frequency of those alleles was observed in patients with "poor response" to superovulation induction in IVF cycles. The average number of oocytes and follicles, which was obtained after stimulation of superovulation, was significantly decreased in FMR1 gene "risk zone" alleles carriers compared to patients with normal alleles of FMR1 gene. The average general dosage of exogenous gonadotrophin, necessary for superovulation induction was significantly higher in heterozygote carriers of FMR1 gene "risk zone" alleles than in patients with normal genotype. Thereby, the FMR1 gene "risk zone" alleles can be one of the hereditary susceptibility factors of impairment nature and stimulated ovulation.
Asunto(s)
Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil/genética , Predisposición Genética a la Enfermedad , Enfermedades del Ovario/genética , Inducción de la Ovulación , Ovulación/genética , Polimorfismo Genético , Expansión de Repetición de Trinucleótido , Adolescente , Adulto , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes , Gonadotropinas/administración & dosificación , Humanos , Ovulación/efectos de los fármacos , Reacción en Cadena de la Polimerasa , Adulto JovenRESUMEN
The number of CAG repeats of exon 1 of AR gene was determined in a group of 228 infertile males with azoospermia (n = 68) and oligozoospermia (n = 160) as well as in control group (124 proven fathers) by fluorescent polymerase chain reaction amplification followed by fragment analysis on automated fluorescent analyzer "A.L.F-express". The frequency of alleles with GAG-repeats < or = 18 was significantly higher (P < 0,01) in the group of patients with azoospermia (17,7%) comparing with the control group (2,4%) as well as in the group of patients with oligozoospermia (12,5%) comparing with the control group (2,4%). The frequency of alleles with CAG-repeats > or = 28 significantly differed (P < 0,01) between the group of patients with oligozoospermia (12,5%) and the control group (2,4%). Our data suggest an association between CAG repeats number and impaired spermatogenesis in azoospermic and oligozoospermic males.
Asunto(s)
Azoospermia/genética , Oligospermia/genética , Polimorfismo Genético , Receptores Androgénicos/genética , Espermatogénesis/genética , Repeticiones de Trinucleótidos/genética , Estudios de Casos y Controles , Exones , Frecuencia de los Genes , Humanos , Masculino , UcraniaRESUMEN
Mutations Arg124Cys, Thr538Arg, Arg555Thr, Arg555Gln, Leu558Pro, and His626Arg in TGFBI gene were analyzed by polymerase chain reaction and restriction in 84 patients with various forms of corneal stromal dystrophies from 49 unrelated families and 29 clinically healthy relatives of these patients. A new mutation in TGFBI gene, Leu558Pro, was identified in the patients with atypical lattice dystrophy. The haplotypes of four microsatellite markers surrounding TGFBI gene region were analyzed in 22 families. The data on association of genotype and phenotype suggest that the analysis of TGFBI gene mutations is important for differential diagnostics of corneal dystrophies.
Asunto(s)
Sustitución de Aminoácidos , Distrofias Hereditarias de la Córnea/genética , Mutación Missense , Factor de Crecimiento Transformador beta1/genética , Análisis Mutacional de ADN/métodos , Femenino , Genotipo , Humanos , Masculino , Linaje , UcraniaRESUMEN
The influence of FMR1, INHalpha1, NAT2, GSTT1 and GSTM1 genes on ovarian function, and their association with POF and "poor response" to exogenous GT after ovulation stimulation were investigated. The carriers of Ala257Thr transition predominated in the studied "poor responders" group. This transition combined with intermediate alleles of FMR1 gene was observed in 1.6% POF patients and 2.5% persons from "poor responders" group but in nobody of the control group. The frequency of deletion in GSTM1 gene in "poor responders" group was significantly higher (p = 0,01) than in normal ovulatory control group. The frequency of Ser680Ser-Ala307Ala polymorphic genotype (22.2%) in "poor responders" group was significantly higher (p = 0.028) than in normal-ovulatory control group (7.7%). The daily dosage of GT in intermediate alleles of FMR1 gene carriers as well in patients with "slow acetylation" NAT2 genotype was significantly higher in comparison to patients without intermediate alleles and patients with "quick acetylation" NAT2 genotype. Quantity of oocytes after ovulation stimulation in women with INHa1 gene Ala257Thr transition was significantly decreased in comparison to patients without such mutation. Further investigations of these genes can play a major role in POF studying and modulation of ovarian response to exogenous GT.
Asunto(s)
Mutación , Ovulación , Insuficiencia Ovárica Primaria/genética , Femenino , Eliminación de Gen , Genotipo , Gonadotropinas/farmacología , Humanos , Ovulación/efectos de los fármacos , Ovulación/genética , Inducción de la Ovulación , Polimorfismo GenéticoRESUMEN
Methods of DNA-analysis of 769G --> A mutations in INHalpha1 gene and CGG-repeats polymorphism in FMRI gene have been developed for creating test-systems for genetically caused forms of premature ovarian failure (POF) diagnostics. The frequency of 769G --> A mutation among women population in Ukraine was established and, by preliminary calculations, makes up 2.8%. Results of analysis of CGG-repeats numbers in FMRI gene in the group of 215 women (oocyte donors) revealed five persons with CGG-repeats numbers, that exceeds the normal one (42 copies). Thus the frequency of persons with allels with high risk of premutation in FMRI gene is 2.3%. The results of our research confirm the actuality of genetic tests of mutations in INHalpha1 and FMR1 genes among the women of reproductive age with the purpose of POF prognosis and prevention the birth of children with fragile X syndrome.
Asunto(s)
ADN/análisis , Síndrome del Cromosoma X Frágil/diagnóstico , Inhibinas/genética , Proteínas del Tejido Nervioso/genética , Insuficiencia Ovárica Primaria/diagnóstico , Proteínas de Unión al ARN/genética , Análisis Mutacional de ADN , Femenino , Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil , Síndrome del Cromosoma X Frágil/genética , Pruebas Genéticas , Humanos , Mutación , Polimorfismo de Longitud del Fragmento de Restricción , Insuficiencia Ovárica Primaria/genética , Expansión de Repetición de TrinucleótidoRESUMEN
Charcot-Marie-Tooth neuropathy (CMT) is one of the most common hereditary disorders, affecting 1:2500 individuals. The major mutation--microduplication of 1.4 megabases in 17p11.2 region, which is responsible for 68-90 % of cases of CMT1, results in CMT1A. In the present article we provide the population genetic study in 52 unrelated non-CMT volunteers from population of Ukraine in three STRs (D17S921, D17S1358 and D17S122) from the 17p11.2 chromosomal region to determine their ability for the CMT1A-duplication detection using STR-PCR method in Ukraine. The informativity for the CMT1A detection in current use STR panel is calculated to be 93,6%. It has been shown that current use STR panel analysis is important for CMT1A duplication detection, early differential diagnosis of CMT including prenatal diagnosis and genetic consulting in high risk families.
Asunto(s)
Enfermedad de Charcot-Marie-Tooth/genética , Duplicación de Gen , Genética de Población , Repeticiones de Microsatélite , Reacción en Cadena de la Polimerasa , Alelos , Donantes de Sangre , Enfermedad de Charcot-Marie-Tooth/diagnóstico , Enfermedad de Charcot-Marie-Tooth/epidemiología , Cromosomas Humanos Par 17 , Frecuencia de los Genes , Genes Dominantes , Haplotipos , Heterocigoto , Humanos , Modelos Genéticos , Mapeo Físico de Cromosoma , Recombinación Genética , Ucrania/epidemiologíaRESUMEN
Allelic polymorphism of five microsatellite loci of the human Y chromosome (DYS19, DYS390, DYS391, DYS392, and DYS393) was analyzed in samples of male populations from Ukraine, Russia, and Belarus (152 subjects in total). The allelic diversity indices (Dg) were determined for all loci; they varied from 0.23 to 0.72. The mean values of this parameter in the Ukrainian, Russian, and Belarussian populations were 0.45, 0.47, and 0.52, respectively. A total of 53 different haplotypes were found in 152 subjects from three populations. The most frequent haplotype was found in 14.5% of the subjects, whereas 35 haplotypes (23%) were each found in only one person. The haplotypic diversity index (Dhp) was 0.94. The genetic distances between the populations studied and some populations of Western and Central Europe were estimated. These data were used to construct a phylogram (tree) of genetic similarity between the populations, which demonstrated that the three Eastern Slavic populations are genetically close to one another and remote from Western European populations.
Asunto(s)
Polimorfismo Genético , Secuencias Repetidas en Tándem/genética , Cromosoma Y , Secuencia de Bases , Cartilla de ADN , Haplotipos , Humanos , Masculino , República de Belarús , Federación de Rusia , UcraniaRESUMEN
The data on 5 PAH gene mutations analysis are presented. The most common mutation observed in Ukrainian population was determined to be R408W (66.6%). As well two minor mutations R158Q (2.5%) and Y414C (1.25%) were identified. The allelic variation of the VNTR-polymorphism in 470 healthy volunteers and 39 PKU-patients were analysed. 7 allelic variants and 15 haplotypes were found. The linkage disequilibrium was displayed between mutation R408W and VNTR-haplotypes 03. An advantages of molecular genetic analysis of mutations and VNTR-polymorphism for diagnosis of PKU in Ukraine are discussed.
Asunto(s)
Repeticiones de Minisatélite , Mutación , Fenilalanina Hidroxilasa/genética , Polimorfismo Genético , Alelos , Haplotipos , Humanos , Fenilcetonurias/enzimología , Fenilcetonurias/genética , UcraniaRESUMEN
The results of molecular-genetic analysis of 12 mini- and microsatellite loci in populations of different regions of Ukraine (Kiev, Kremenchug, L'vov, Lugansk, and in Crimea tatars) were presented. Allele frequencies for each locus were determined and genetic distances between analyzed populations were calculated. The results of the analysis were applied for investigation of genetic heterogeneity and biological history of populations from different regions of Ukraine.
Asunto(s)
Repeticiones de Microsatélite , Polimorfismo Genético , Alelos , Mapeo Cromosómico , ADN/genética , Femenino , Frecuencia de los Genes , Variación Genética , Humanos , Masculino , Secuencias Repetitivas de Ácidos Nucleicos , Ucrania , Población UrbanaRESUMEN
The disaster at the Chernobyl Nuclear Power Plant in April 1986 was accompanied by the release of large amounts of radioisotopes, resulting in the contamination of extensive regions of the Ukraine, Byelorus and the Russian Federation. Cleanup workers (liquidators) and people living on land contaminated with radioactive materials were most exposed. To assess the genetic effects of exposure to ionizing radiation after the Chernobyl accident, we have measured the frequency of inherited mutant alleles at seven hypermutable minisatellite loci in 183 children born to Chernobyl cleanup workers (liquidators) and 163 children born to control families living in nonirradiated areas of the Ukraine. There was no significant difference in the frequency of inherited mutant alleles between the exposed and control groups. The exposed group was then divided into two subgroups according to the time at which the children were conceived with respect to the fathers' work at the power plant. Eighty-eight children were conceived either while their fathers were working at the facility or up to 2 months later (Subgroup 1). The other 95 children were conceived at least 4 months after their fathers had stopped working at the Chernobyl site (Subgroup 2). The frequencies of mutant alleles were higher for the majority of loci (i.e. 1.44 times higher for CEB1) in Subgroup 1 than in Subgroup 2. This result, if confirmed, would reconcile the apparently conflicting results obtained in the chronically exposed Byelorus population and the Hiroshima-Nagasaki A-bomb survivors.
Asunto(s)
Padre , Mutación de Línea Germinal/efectos de la radiación , Repeticiones de Microsatélite/efectos de la radiación , Exposición Profesional , Centrales Eléctricas , Liberación de Radiactividad Peligrosa , Alelos , Niño , Femenino , Humanos , Masculino , UcraniaRESUMEN
Clinal patterns of autosomal genetic diversity within Europe have been interpreted in previous studies in terms of a Neolithic demic diffusion model for the spread of agriculture; in contrast, studies using mtDNA have traced many founding lineages to the Paleolithic and have not shown strongly clinal variation. We have used 11 human Y-chromosomal biallelic polymorphisms, defining 10 haplogroups, to analyze a sample of 3,616 Y chromosomes belonging to 47 European and circum-European populations. Patterns of geographic differentiation are highly nonrandom, and, when they are assessed using spatial autocorrelation analysis, they show significant clines for five of six haplogroups analyzed. Clines for two haplogroups, representing 45% of the chromosomes, are continentwide and consistent with the demic diffusion hypothesis. Clines for three other haplogroups each have different foci and are more regionally restricted and are likely to reflect distinct population movements, including one from north of the Black Sea. Principal-components analysis suggests that populations are related primarily on the basis of geography, rather than on the basis of linguistic affinity. This is confirmed in Mantel tests, which show a strong and highly significant partial correlation between genetics and geography but a low, nonsignificant partial correlation between genetics and language. Genetic-barrier analysis also indicates the primacy of geography in the shaping of patterns of variation. These patterns retain a strong signal of expansion from the Near East but also suggest that the demographic history of Europe has been complex and influenced by other major population movements, as well as by linguistic and geographic heterogeneities and the effects of drift.
Asunto(s)
Variación Genética/genética , Geografía , Lenguaje , Cromosoma Y/genética , África del Norte , Alelos , Emigración e Inmigración , Europa (Continente) , Frecuencia de los Genes/genética , Marcadores Genéticos/genética , Haplotipos/genética , Humanos , Lingüística , Masculino , Modelos Genéticos , Océanos y Mares , Filogenia , Polimorfismo Genético/genéticaRESUMEN
The results of the analysis of 32 b.p. deletion in the CCR5 macrophage chemokine receptor gene in regional populations of Ukraine are presented. The frequency of this mutation ranged from 9.1% to 11% in the Slavs populations but in the population of Crimea Tartars the frequency of mutation was only 5%.
Asunto(s)
Receptores CCR5/genética , Emparejamiento Base , Femenino , Eliminación de Gen , Frecuencia de los Genes , Heterogeneidad Genética , Humanos , Masculino , UcraniaRESUMEN
Seven already known CF mutations were searched in 170 unrelated cystic fibrosis patients from different regions of Ukraine. Their frequencies in this sample were: delta F508-50%, 1677delTA-0.3% (10th exon), R553X-0.6%, G551D-0.3% (11th exon), R334W-0.6% (7th exon). 1154insTC (7th exon) and S549I (11th exon) were not found. Heterozygotes for delta F508 were searched in 865 healthy volunteers from different Ukranian regions. Their frequencies ranged from 1:28 to 1:70. We report here unpublished population data from Ukraine in order to discuss the origin, evolution and dispersion of chromosomes bearing the delta F508 mutation. Selection in terms of heterozygote advantage is also discussed.
Asunto(s)
Fibrosis Quística/genética , Análisis Mutacional de ADN , Frecuencia de los Genes , Tamización de Portadores Genéticos , Pruebas Genéticas/métodos , Desequilibrio de Ligamiento , Distribución por Edad , Estudios de Casos y Controles , Femenino , Humanos , Masculino , UcraniaRESUMEN
The allelic variation of the hypervariable locus from 3'-untranslated region of apolipoprotein B gene in healthy volunteers from different regions of Ukraine was analysed. Among 396 DNA samples studied, 13 allelic variants were identified with the number of repeats ranging from 29 to 53. The frequency of alleles varied from 0.0013 to 0.3575 with the mean heterozygosity index 77.9%. The investigation of the genetic differences between 4 populations of different regions of Ukraine has been performed. A high level of the polymorphism and a heterozygosity index of APOB locus allow to recommend this polymorphic system as an informative marker for study of genetic structure population and to forensic medical analysis.
Asunto(s)
Alelos , Apolipoproteínas B/genética , Variación Genética/genética , Genética de Población , Polimorfismo Genético/genética , Distribución de Chi-Cuadrado , Cartilla de ADN , Frecuencia de los Genes/genética , Genotipo , Heterocigoto , Humanos , Datos de Secuencia Molecular , Reacción en Cadena de la Polimerasa/métodos , Reacción en Cadena de la Polimerasa/estadística & datos numéricos , Ucrania , Población UrbanaRESUMEN
Seven mutations in CFTR gene have been screened in patients with cystic fibrosis from Ukraine. The frequency of major mutation delF508 among patients and healthy donors from different regions was studied. Data of age, origin and possible ways of spreading of this mutation in Ukraine have been discussing.