RESUMO
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.
Assuntos
Receptor alfa de Estrogênio/genética , Polimorfismo Genético , Adulto , Alelos , Sequência de Bases , Repetições de Dinucleotídeos , Feminino , Expressão Gênica , Frequência do Gene , Genética Populacional , Genótipo , Humanos , Íntrons , Masculino , Dados de Sequência Molecular , Regiões Promotoras Genéticas , Transcrição Gênica , UcrâniaRESUMO
Direct molecular-genetic analysis of CAG- and CCG-polymorphism has been carried out in 37 patients with Huntington disease (HD) clinical diagnosis. Heterozygote expanded HD alleles were found in 33 patients, in 4 cases DNA-analysis did not confirm the preliminary clinic diagnosis. Twenty asymptomatic high risk carriers were analyzed, 11 individuals inherited HD chromosome. Linkage disequilibrium between expanded CAG-alleles and the (CGG)10-allele of IT15gene in the group of HD-patients from Ukraine has been displayed. The significant differences in CAG-repeat sex-determined instability inheritance have been revealed. The genetic factors associated with the HD age of onset have been analyzed.
Assuntos
Doença de Huntington/genética , Proteínas do Tecido Nervoso/genética , Proteínas Nucleares/genética , Expansão das Repetições de Trinucleotídeos/genética , Adulto , Idade de Início , DNA/genética , Frequência do Gene , Genótipo , Heterozigoto , Humanos , Proteína Huntingtina , Doença de Huntington/epidemiologia , Pessoa de Meia-Idade , Linhagem , Fenótipo , Reação em Cadeia da Polimerase , Ucrânia/epidemiologiaRESUMO
The assays for analysis of the most frequent mutations of PAH gene in Ukraine (R158Q, R408W, Y414C, P281L, R252W, R261Q) for RKU patients and healthy people using denaturing gradient gel-electrophoresis (DGGE) were developed. The study of spectrum of mutations in exons 5,7,12 PAH gene using DGGE technique and further sequencing of unidentified mutant variants was held.
Assuntos
Éxons/genética , Testes Genéticos , Mutação , Fenilalanina Hidroxilase/genética , Fenilcetonúrias/genética , Sequência de Bases , Análise Mutacional de DNA , Eletroforese em Gel de Poliacrilamida , Humanos , Dados de Sequência Molecular , Fenilcetonúrias/enzimologia , Fenilcetonúrias/epidemiologia , Polimorfismo Genético , Ucrânia/epidemiologiaRESUMO
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.
Assuntos
Mutação , Ovulação , Insuficiência Ovariana Primária/genética , Feminino , Deleção de Genes , Genótipo , Gonadotropinas/farmacologia , Humanos , Ovulação/efeitos dos fármacos , Ovulação/genética , Indução da Ovulação , Polimorfismo GenéticoRESUMO
Charcot-Marie-Tooth neuropathy (CMT) is one of the most common hereditary disorders, affecting 1:2500 individuals. CMT is a heterogeneous group of disorders characterized by chronic peripheral motor and sensory neuropathy. We have performed the detection of 1.5 Mb CMT1A tandem duplication in 17p11.2-12 chromosome region for autosome-dominant CMT1 patients and their relatives using the analysis of two (CA)n polymorphic microsatellite loci: 17S921 and 17S1358 localised in the duplication region. CMT1A duplication was found in three of five autosome-dominant CMT1 families. It has been shown that CMT1A duplication analysis is important for early differential diagnosis of CMT including prenatal diagnosis and genetic consulting in high risk families.
Assuntos
Doença de Charcot-Marie-Tooth/genética , Cromossomos Humanos Par 17 , Duplicação Gênica , Doença de Charcot-Marie-Tooth/sangue , Doença de Charcot-Marie-Tooth/diagnóstico , Doença de Charcot-Marie-Tooth/epidemiologia , DNA/análise , Humanos , Repetições de Microssatélites , Linhagem , Reação em Cadeia da PolimeraseRESUMO
Recent studies have shown that a significant proportion of men with severe infertility had microdeletions of the Y-chromosome. It has thus become important to screen men with a high risk of the Y-chromosome microdeletions, as this will determine if counseling is needed prior to starting infertility treatment. The current state of knowledge about the nature of genes responsible for spermatogenesis and significance of microdeletions of the Y-chromosome for male infertility are analyzed in the review.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Y/genética , Infertilidade Masculina/genética , Espermatogênese/genética , Mapeamento Cromossômico , Humanos , Infertilidade Masculina/etiologia , MasculinoRESUMO
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.
Assuntos
Repetições Minissatélites , Mutação , Fenilalanina Hidroxilase/genética , Polimorfismo Genético , Alelos , Haplótipos , Humanos , Fenilcetonúrias/enzimologia , Fenilcetonúrias/genética , UcrâniaRESUMO
The results of DNA analysis of major mutations in CFTR gene in 260 families from Ukraine with high risk of cystic fibrosis are presented. The perspectives of molecular diagnosis as a main tool for cystic fibrosis prevention are discussed.
Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/genética , Éxons/genética , Mutação/genética , Cromossomos Humanos Par 7/genética , DNA/genética , DNA/isolamento & purificação , Primers do DNA , Eletroforese em Gel de Poliacrilamida , Humanos , Reação em Cadeia da Polimerase/métodos , Fatores de Risco , UcrâniaRESUMO
The results from molecular genetic analysis of some mutations in the 10th and 11th exons of cystic fibrosis transmembrane regulator (CFTR) gene as well as of deletions in the 8, 17, 19, 43, 50, 60th exons of dystrophin gene in 61 CF-families and 21 DMD-families from different Ukraine regions are presented. It was shown that delta F508 frequency of CF-patients was 59.2%, the frequencies of S5491, G551D and K533X were about 1%. The frequency of delta F508-carriers analysed among 365 healthy donors from different regions of Ukraine was 1:40. The analyzed deletions of dystrophin gene were revealed only among 6 DMD-patients. The associations of analyzed mutations of CFTR gene and DMD-gene with RELP's in 4 loci of chromosome 7 and 2 loci of X-chromosome, respectively, were found. The results of prenatal diagnosis of cystic fibrosis and DMD are presented.
