scholarly journals Apo E gene polymorphism in patients with metabolic syndrome and cognitive disorders

2012 ◽  
Vol 18 (5) ◽  
pp. 421-428
Author(s):  
I. B. Zueva ◽  
A. S. Ulitina ◽  
D. N. Ghorab ◽  
M. V. Moskalenko ◽  
M. V. Dubina
Keyword(s):  
Metabolic Syndrome ◽  
Neuropsychological Tests ◽  
Protective Factor ◽  
Molecular Genetic ◽  
Cognitive Disorders ◽  
Molecular Genetic Analysis ◽  
Allelic Variant ◽  
Apo E ◽  
Polymerase Chain ◽  
Design And Methods

Objective. Тс determine allelic variants frequencies caused by Apo E polymorphism in patients with metabolic syndrome and cognitive dysfunction (CD). Design and methods. 54 participants had undergone anthropometric measurements, blood examination (glucose, cholesterol and triglycerides), molecular genetic analysis (polymerase chain reaction, restriction fragments length polymorphism) and neuropsychological tests. Results. Allelic variant s4 of Apo E is an unfavourable factor contributing to the development of CD, depression, anxiety disorders. Allelic variant s2 of Apo E is protective factor in relation to the development of depression.

Central neurocytoma: morphological, flow cytometric, polymerase chain reaction, fluorescence in situ hybridization, and karyotypic analyses

1999 ◽  
Vol 90 (2) ◽  
pp. 348-354 ◽  
Author(s):  
Venita Jay ◽  
Vern Edwards ◽  
Eelco Hoving ◽  
James Rutka ◽  
Laurence Becker ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
In Situ Hybridization ◽  
Ganglion Cells ◽  
Molecular Genetic ◽  
Central Neurocytoma ◽  
Molecular Genetic Analysis ◽  
Fish Analysis ◽  
Chain Reaction ◽  
Polymerase Chain

✓ The results of cytogenetic and molecular genetic analysis of a central neurocytoma are presented. Central neurocytomas are intriguing neoplasms that exhibit primarily neuronal, but also glial characteristics, which indicate an origin from a pluripotential neuroglial precursor. The authors describe an intraventricular neurocytoma in an 11-year-old boy that showed anaplastic features with widespread necrosis and mitoses, as well as extensive calcification and foci that exhibited marked neuronal differentiation with clusters of ganglion cells. Immunohistochemical examination showed prominent synaptophysin and neurofilament positivity and focal glial fibrillary acidic protein positivity. Electron microscopy revealed abundant neuritic processes with microtubules and dense core granules as well as mature ganglion cells. Flow cytometry studies revealed increased S (7.8%) and G2M (9.7%) phase components. Molecular and cytogenetic studies were undertaken to assess whether there were similarities to two other tumor types that exhibit neuronal differentiation, the neuroblastoma and medulloblastoma. Polymerase chain reaction and fluorescence in situ hybridization (FISH) analysis revealed no evidence of amplification of the MYCN oncogene or chromosome 1p deletion, which are common in neuroblastomas. Chromosomal analysis by G banding revealed a complex karyotype, with counts in the near-diploidy range (45–48). Two chromosomes 1 appeared normal on G banding and FISH analysis, with p58 signals present on the distal p arm of both chromosomes 1; however, three additional copies of distal 1q were present in rearrangements with 4 and 7. Although the histological findings indicate a kinship to the neuroblastoma and medulloblastoma, the central neurocytoma appears to have a different karyotypic profile, although more cases need to be assessed using molecular genetic analysis.

The Ikaros gene, a central regulator of lymphoid differentiation, fuses to the BCL6 gene as a result of t(3;7)(q27;p12) translocation in a patient with diffuse large B-cell lymphoma

Blood ◽  
2000 ◽  
Vol 95 (8) ◽  
pp. 2719-2721 ◽  
Author(s):  
Yoshitaka Hosokawa ◽  
Yumiko Maeda ◽  
Ryo Ichinohasama ◽  
Ikuo Miura ◽  
Masafumi Taniwaki ◽  
...  
Keyword(s):  
B Cell ◽  
Molecular Genetic ◽  
Regulatory Region ◽  
B Cell Lymphoma ◽  
Molecular Genetic Analysis ◽  
B Cell Differentiation ◽  
Polymerase Chain ◽  
Large B Cell

The BCL6 gene, isolated from the breakpoints of 3q27-associated chromosomal translocations, has been implicated in diffuse large B-cell lymphomas (DLBL). Here we describe the molecular characterization of novel t(3;7)(q27;p12) translocations in 2 patients with DLBL. Molecular genetic analysis of the breakpoint area involving BCL6 revealed the presence of the Ikaros gene, a central regulator of lymphoid differentiation that had been mapped to human chromosome 7 band p13-p11.1. As a molecular consequence of the translocation, the 5′ regulatory region of the BCL6 gene was replaced by the putative 5′ regulatory region of theIkaros gene, probably leading to deregulated expression of theBCL6 gene throughout B-cell differentiation. Reverse transcription-polymerase chain reaction (RT-PCR) and fluorescence in situ hybridization (FISH) analyses of a patient sample established that the t(3;7)(q27;p12) results in fusion of the Ikaros andBCL6 genes. This study provides the first evidence that the Ikaros gene is rearranged in human hematopoietic malignant disorders.

scholarly journals Chickpea genotypes characteristics on resistance to fusarium Fusarium oxysporum f. sp. ciceris

2018 ◽  
Vol 23 ◽  
pp. 166-169
Author(s):  
V. A. Chekalov ◽  
N. E. Volkova
Keyword(s):  
Polymerase Chain Reaction ◽  
Molecular Markers ◽  
Fusarium Oxysporum ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Chain Reaction ◽  
Resistance Level ◽  
Extraction And Purification ◽  
Polymerase Chain ◽  
Southern Ukraine

Aim. Molecular-genetic analysis of the chickpea genotypes for foc0, foc3, foc4 resistance genes to Fusarium oxysporum f. sp ciceris. Methods. Extraction and purification of DNA, spectrophotometry, polymerase chain reaction, electrophoresis in polyacrylamide gels. Results. 35 chickpea lines and varieties of Ukrainian and foreign breeding characterized according to genotyping on foc0, foc3, foc4 genes of resistance to Fusarium oxysporum f. sp ciceris by the microsatellite markers TA59, TR19 and TR59. Fragments of the expected size for all markers were obtained for samples, for which the resistance level was fixed to certain races. Match between data on the presence of a amplification fragment of a certain size and resistance level among other samples is not found. Conclusions. For 35 chickpea varieties and lines the allele state of foc0, foc3, foc4 genes of resistance to the F. oxysporum f. sp ciceris races 0, 3, 4 is established. The variety ‘Pam’yat’ is recommended as a control of resistance to F. oxysporum f. sp ciceris races 0, 3, 4 in the southern Ukraine conditions. Keywords: chickpea, genes, molecular markers, fusarios, resistance.

scholarly journals ASSOCIATION OF rs9939609 FTO GENE POLYMORPHISM WITH METABOLIC SYNDROME AND ITS COMPONENTS IN RUSSIAN POPULATION

2013 ◽  
Vol 19 (4) ◽  
pp. 311-319 ◽  
Author(s):  
N. V. Khromova ◽  
O. P. Rotar ◽  
A. M. Erina ◽  
D. A. Shavshin ◽  
N. P. Alexeeva ◽  
...  
Keyword(s):  
Metabolic Syndrome ◽  
Deoxyribonucleic Acid ◽  
Plasma Lipids ◽  
Risk Allele ◽  
Polymerase Chain Reaction Method ◽  
Peripheral Blood Lymphocytes ◽  
Russian Population ◽  
Fto Gene ◽  
Polymerase Chain ◽  
Design And Methods

Objective. To study the association of genetic determinant (A-risk allele of rs9939609 SNP of FTO gene) with prevalence of metabolic syndrome (MS) and its components in residents of different Russian cities.Design and methods. We examined 425 patients with MS or its components from different cities of Russia (St Petersburg, Kursk, Kaliningrad), stratiied by sex and age [175 male (41,2 %) and 250 female (58,8 %), mean age — 47,2 ± 0,6 years]. All subjects were interviewed with special questionnaire. Physical examination included anthropometry (waist and hip circumferences, weight, height), blood pressure and heart rate registration. MS was deined according to NCEP-ATPIII as well as IDF (2005) and JIS (2009) criteria. Fasting plasma lipids and glucose were performed in all patients by Hitachi-902 equipment (Roche reagents). Genomic deoxyribonucleic acid (DNA) was puriied from peripheral blood lymphocytes and genotyping was performed using real time polymerase chain reaction method by allele-speciic probes (Applied Biosystems).Results. Among males with AA genotype waist and hip circumferences and weight were higher, compared to subjects with TA and TT genotypes (p = 0,0002, p = 0,001 and p = 0,01, respectively). There was a tendency to the increase of body mass index (BMI) in the group with AA genotype compared to subjects with TA and TT genotypes (29,7 ± 0,7; 27,6 ± 0,4 and 27,9 ± 0,3 kg/m2, respectively, р = 0,1). In our study AA genotype was associated with higher glucose level compared to TA and TT genotypes (5,6 ± 0,2; 5,0 ± 0,1 and 5,1 ± 0,1 mmol/l, respectively, p = 0,04). There was a tendency to the increase of the proportion of hypertensives among patients with AA genotype compared to TA and TT genotypes (70,5; 65,2 and 57 %, respectively, p = 0,18).Conclusion. In Russian population FTO genepolymorphism rs9969309 is associated not only with abdominal obesity, but also with other components of MS, including hyperglycemia and hypertension.

Histologic Analysis of Gonadal Tissue in Patients with Ullrich-Turner Syndrome and Derivative Y Chromosomes

2005 ◽  
Vol 8 (2) ◽  
pp. 197-203 ◽  
Author(s):  
L.-C. Horn ◽  
A. Limbach ◽  
W. Hoepffner ◽  
R.B. Tröbs ◽  
E. Keller ◽  
...  
Keyword(s):  
At Risk ◽  
Polymerase Chain Reaction ◽  
Turner Syndrome ◽  
Molecular Genetic ◽  
Germ Cell Tumors ◽  
Molecular Genetic Analysis ◽  
Chain Reaction ◽  
Additional Tool ◽  
Polymerase Chain ◽  
Chromosomal Sequences

To identify patients who had Ullrich-Turner syndrome (UTS) and were at risk for gonadoblastoma or associated germ cell tumors, molecular genetic analysis was carried out to detect Y chromosomal sequences. From peripheral blood samples of 5 patients who had cytogenetically confirmed UTS, genomic DNA was extracted and screened for Y chromosomal sequences by polymerase chain reaction. The morphology of the gonadal tissues was compared with results from polymerase chain reaction. Three phenotypic females showed UTS mosaicism with normal X chromosome accompanied by Y chromosomal material, and 2 patients showed marker chromosomes. Molecular analysis represented loci PABY, SRY, ZFY, TSPY, DYZ3, DYZ1 DXYS, 19Y, DYS-273, DYS-148, DYS218, DYS224, and DYZ1. Three patients showed gonadal tumors (1 with unilateral gonadoblastoma, 1 with unilateral dysgerminoma, and 1 patient had both tumors in 1 gonad). Molecular genetic screening for Y chromosomal sequences may be useful as an additional tool for the identification of patients at risk for a gonadal tumor. Careful, complete processing, including step sectioning, of the gonadectomy specimens to detect small lesions is recommended.

scholarly journals ITGA4, ITGB7, TNFα, IL10 genes polymorphisms in the ethnic Buryat patients with ulcerative colitis

2021 ◽  
Vol 49 ◽  
Author(s):  
I. V. Zhilin ◽  
E. Yu. Chashkova ◽  
A. A. Zhilina ◽  
A. Ch. Tsyrempilova
Keyword(s):  
Ulcerative Colitis ◽  
Healthy Volunteers ◽  
Molecular Genetic ◽  
Genetic Material ◽  
Binary Logistic Regression ◽  
Molecular Genetic Analysis ◽  
Binary Logistic Regression Analysis ◽  
Irkutsk Region ◽  
In Trans ◽  
Polymerase Chain

Background: Worldwide studies of genetic material, polymorphisms and prognostic gene models for immune-associated disorders have established differences in trans-ethnic population cohorts, which determine phenotypic and other characteristics of the course of these diseases. Ulcerative colitis (UC) is a  chronic immune inflammation of the colon mucosa. More than 100 gene polymorphisms associated with multiple integrated cross-talks have been discovered.Aim: To study the ITGA4, ITGB7, TNFα, IL10 genes polymorphisms in patients with ulcerative colitis belonging to the Buryat ethnic group and living in Irkutsk region, Buryat Republic and Transbaikal territory.Materials and methods: The study included a total of 49 subjects, 24 of them being UC patients and 25 healthy volunteers, compatible in gender, age and ethnic background. The molecular genetic analysis by real time polymerase chain reaction was performed with DNA samples from whole peripheral blood leucocytes.Results: The differences in the prevalence of the ITGA4(rs1143674, rs1449263), ITGB7(rs11574532), TNFα(rs1800629), and IL10(rs1800871) genotypes were non-significant (р>0.05). The IL10(rs1800896) GG homozygote patients had higher odds ratio (OR) for UC compared to the carriers of other polymorphisms (OR 24; 95%  confidence interval (CI) 2.783–206.969; р=0.001). The AA homozygote type was less frequent among UC patients compared to healthy volunteers (OR 0.17; 95%  CI 0.049–0.589; р=0.004). The analysis of genotype frequency distribution of all studied genes including clinical characteristics of the disease showed no significant results (р>0.05). The binary logistic regression analysis has shown that IL10(rs1800896)GG was an UC predictor with sensitivity of 96% and specificity of 50%  (AUC 0.760; 95% CI 0.621–0.899; p=0.002; standard error 0.71).Conclusion: The GG genotype of IL10(rs1800896) is a  UC predictor, whereas the AA genotype is significantly more prevalent among healthy subjects of the Buryat cohort. 

The Ikaros gene, a central regulator of lymphoid differentiation, fuses to the BCL6 gene as a result of t(3;7)(q27;p12) translocation in a patient with diffuse large B-cell lymphoma

Blood ◽  
2000 ◽  
Vol 95 (8) ◽  
pp. 2719-2721 ◽  
Author(s):  
Yoshitaka Hosokawa ◽  
Yumiko Maeda ◽  
Ryo Ichinohasama ◽  
Ikuo Miura ◽  
Masafumi Taniwaki ◽  
...  
Keyword(s):  
B Cell ◽  
Molecular Genetic ◽  
Regulatory Region ◽  
B Cell Lymphoma ◽  
Molecular Genetic Analysis ◽  
B Cell Differentiation ◽  
Polymerase Chain ◽  
Large B Cell

Abstract The BCL6 gene, isolated from the breakpoints of 3q27-associated chromosomal translocations, has been implicated in diffuse large B-cell lymphomas (DLBL). Here we describe the molecular characterization of novel t(3;7)(q27;p12) translocations in 2 patients with DLBL. Molecular genetic analysis of the breakpoint area involving BCL6 revealed the presence of the Ikaros gene, a central regulator of lymphoid differentiation that had been mapped to human chromosome 7 band p13-p11.1. As a molecular consequence of the translocation, the 5′ regulatory region of the BCL6 gene was replaced by the putative 5′ regulatory region of theIkaros gene, probably leading to deregulated expression of theBCL6 gene throughout B-cell differentiation. Reverse transcription-polymerase chain reaction (RT-PCR) and fluorescence in situ hybridization (FISH) analyses of a patient sample established that the t(3;7)(q27;p12) results in fusion of the Ikaros andBCL6 genes. This study provides the first evidence that the Ikaros gene is rearranged in human hematopoietic malignant disorders.

scholarly journals The qPCR analysis of vaginal microflora for the diagnosis of bacterial vaginosis

2019 ◽  
Vol 2 (2) ◽  
pp. e00084
Author(s):  
M.Е. Senina ◽  
Y.А. Savochkina ◽  
L.V. Skvortsov ◽  
T.I. Popova ◽  
L.V. Dzhedzheia
Keyword(s):  
Bacterial Vaginosis ◽  
Molecular Genetic ◽  
Anaerobic Bacteria ◽  
Molecular Genetic Analysis ◽  
Sexually Transmitted ◽  
Vaginal Microflora ◽  
Normal Microflora ◽  
Polymerase Chain ◽  
Tract Infections ◽  
General Balance

The correct information about of the vaginal microflora plays an important role in preventing the occurrence of urinary tract infections and sexually transmitted infections among women. Disbalance of obligate and facultative microflora causes disbacteriosis, a risk factor for emergence of infectious diseases. It is known that the cause of bacterial vaginosis (BV) is not a single pathogen but a impairments in of the general balance of the vaginal microflora, which manifests a decrease of the normal microflora (Lactobacillus spp) and intense increase of pathogenic aerobic and anaerobic bacteria. The development of molecular genetic analysis methods, in particular, approaches based on the use of polymerase chain reaction (PCR), significantly expanded understanding of the diversity of microbial biotopes, including identification of the key and new «players» in the development of BV. The aim of our study was to evaluate the performance of real-time PCR kit «Femoscreen» («Lytech», Russia) for comprehensive BV diagnosis.

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