G1691A MUTATION OF  F5 GENE AND PREECLAMPSIA

2014 ◽  
pp. 13-19
Author(s):  
Ngoc Thanh Cao ◽  
Thi Minh Thi Ha ◽  
Viet Nhan Nguyen ◽  
Vu Quoc Huy Nguyen ◽  
Duy Tran
Keyword(s):  
Risk Factor ◽  
Endothelial Dysfunction ◽  
Pregnant Women ◽  
Peripheral Blood ◽  
Factor V Leiden ◽  
Peripheral Blood Lymphocytes ◽  
Factor V ◽  
Blood Lymphocytes ◽  
Mutation Carriers ◽  
Pcr Rflp

Background:G1691A mutation of F5 gene is a risk factor of thrombosis and endothelial dysfunction causing preeclampsia (PE). This study aimed to (1) determine the rate of 1691GG, 1691GA and 1691AA genotypes of F5 gene in preeclamptic and normotensive pregnant women, and (2) survey the association between G1691A mutation of F5 gene and preeclampsia. Patients and methods: 73 preeclamptic pregnant women and 292 normotensive pregnant women were determined G1691A genotypes of F5 gene by PCR-RFLP in with DNA samples extracted from peripheral blood lymphocytes. Results:100% normotensive pregnant women were 1691GG genotype. In the group of preeclamptic pregnant women, the rate of 1691GA genotype and 1691GG were 4.1% and 95.9%, respectively. G1691A mutation was a risk factor of preeclampsia, with OR = 29.04, 95%CI = 1.48-558.72. The rate of G1691A mutation carriers in mild PE group was 0%, in severe PE was 7.7% and in eclampsia was 100%. Conclusion:There was the association between G1691A mutation and the development and severity of preeclampsia. Keywords: Preeclampsia, G1691A mutation, factor V Leiden, F5 gene.

scholarly journals Polymorphisms of the Homologous Recombination GeneRAD51in Keratoconus and Fuchs Endothelial Corneal Dystrophy

2013 ◽  
Vol 35 ◽  
pp. 353-362 ◽  
Author(s):  
Ewelina Synowiec ◽  
Katarzyna A. Wojcik ◽  
Justyna Izdebska ◽  
Ewelina Binczyk ◽  
Janusz Blasiak ◽  
...  
Keyword(s):  
Homologous Recombination ◽  
Environmental Factors ◽  
Protective Effect ◽  
Peripheral Blood ◽  
Corneal Dystrophy ◽  
Peripheral Blood Lymphocytes ◽  
The Other ◽  
Blood Lymphocytes ◽  
Pcr Rflp ◽  
Frequency Occurrence

Purpose. We investigated the association between genotypes and haplotypes of the c.-61G>T (rs 1801320) and c.-98G>C (rs 1801321) polymorphisms of theRAD51gene and the occurrence of keratoconus (KC) and Fuchs endothelial corneal dystrophy (FECD) in dependence on some environmental factors.Methods. The polymorphisms were genotyped in peripheral blood lymphocytes of 100 KC and 100 FECD patients as well as 150 controls with PCR-RFLP.Results. The G/T genotype of the c.-61G>T polymorphism was associated with significantly increased frequency occurrence of KC (crude OR 2.99, 95% CI 1.75–5.13). On the other hand, the G/G genotype of this polymorphism was positively correlated with a decreased occurrence of this disease (crude OR 0.52, 95% CI 0.31–0.88). We did not find any correlation between genotypes/alleles of the c.-98G>C polymorphism and the occurrence of KC. We also found that the G/G genotype and G allele of the c.-98G>C polymorphism had a protective effect against FECD (crude OR 0.51, 95% CI 0.28–0.92; crude OR 0.53, 95% CI 0.30–0.92, resp.), while the G/C genotype and the C allele increased FECD occurrence (crude OR 1.85, 95% CI 1.01–3.36; crude OR 1.90, 95% CI 1.09–3.29, resp.).Conclusions. The c.-61T/T and c.-98G>C polymorphisms of theRAD51gene may have a role in the KC and FECD pathogenesis and can be considered as markers in these diseases.

Clinical and pathogenetic peculiarities of development of endothelial dysfunction and arterial rigidity in patients with chronic obstructive pulmonary disease

2016 ◽  
Vol 94 (2) ◽  
pp. 113-120 ◽  
Author(s):  
Marina G. Mamaeva ◽  
I. V. Demko ◽  
A. B. Salmina ◽  
E. A. Sobko ◽  
N. A. Malinovskaya ◽  
...  
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Endothelial Dysfunction ◽  
Systemic Inflammation ◽  
Peripheral Blood ◽  
Peripheral Blood Lymphocytes ◽  
Bronchial Obstruction ◽  
Blood Lymphocytes ◽  
Artery Disease ◽  
Severe Copd

The purpose of the study was to examine the relationship between functional parameters, arterial rigidity, lipid profile, markers of systemic inflammation and endothelial dysfunction in patients with COPD and COPD + coronary heart disease. We examined 110 subjects divided into 3 groups. Ggroup 1 included 40 patients with severe and very severe COPD, group 2 consisted of 40 patients with severe and very severe COPD + coronary artery disease, the control group was comprised of 30 healthy volunteers. We studied parameters of respiratory function, the level of blood oxygenation, the main characteristics of arterial rigidity, plasma lipid, TNF-a, CRP, fibrinogen, sPECAM-1 levels and the expression of CD38/ADP-ribosylcyclase in peripheral blood lymphocytes. The study revealed increased rigidity of the central arteries in the patients of groups 1 and 2 regardless of the duration of observation and the presence of coronary artery disease, as evidenced by the increase of the pulse wave velocity in the aorta. Patients of both groups had elevated levels of TNF-a, CRP and fibrinogen indicating systemic inflammatory response. Taken together, the enhanced expression of CD38 in peripheral blood lymphocytes, elevated concentration of soluble CD31 (sPECAM-1) in both groups related to bronchial obstruction and neutrophil elastase activity as well as increased rigidity of the vascular bed gives evidence that the CD38 and sCD31 relationship plays a role in the formation of endothelial dysfunction, and dysregulation of vascular tone in COPD patients. Disorders of lipid metabolism combined with increased rigidity of the vascular wall, elevated levels of markers of systemic inflammation and endothelial dysfunction, suggest that patients with COPD are at risk of cardiovascular events.

scholarly journals Association between inherited thrombophilia in pregnancy and micronucleus frequency in peripheral blood lymphocytes

2017 ◽  
Vol 20 (2) ◽  
pp. 11-18 ◽  
Author(s):  
GM Šošić ◽  
N Jović ◽  
B Rakić ◽  
A Dimitrijević ◽  
M Varjačić
Keyword(s):  
Pregnant Women ◽  
Peripheral Blood ◽  
First Trimester ◽  
Peripheral Blood Lymphocytes ◽  
Control Group ◽  
Case Group ◽  
Endogenous Factors ◽  
Blood Lymphocytes ◽  
The Individual ◽  
The Impact

Abstract The aim of this study was to determine possible predictors of an increased frequency of micronucleus (MN) and the impact of thrombophilia on the chromosomal instability in peripheral blood lymphocytes (PBL) of pregnant women in their first trimester. This study was designed as a case-control study on 74 pregnant women. It was performed in the gestational age of 11 to 14 weeks, when blood samples were collected and incubated for 72 hours. The individual MN frequency in PBL was measured by cytokinesis-block micronucleus (CBMN) assay. Women were grouped in control group [≤4 MN/1000 binucleated (BN) cells] and case group (>4 MN/1000 BN cells). Potential mutagenic effects of exogenous/endogenous factors in pregnant women were analyzed. By analyzing the given results, it can be concluded that pregnant women with thrombophilia have 26.69-times more chance of having a frequency of >4 MN/1000 BN than pregnant women with no thrombophilia. Our research was primarily aimed at showing that the presence of thrombophilia was a statistically important predictor of an increased MN frequency in pregnant women and it can predict about one-third of the total variance in MN frequency in the studied population.

Sign in / Sign up

Export Citation Format

Share Document