Three thrombophilic polymorphisms, FV G1691A, FII G20210A and MTHFR C677T were investigated in Israeli populations by FRET, (fluorescence resonance energy transfer) real-time PCR. We observe extensive variability in the frequencies of each of the polymorphisms, as has been observed in the study of other polymorphisms in these populations. Very high allele frequencies for FV G1691A (the highest 0.087 in Turkish and Greek Jews) and FII G20210A (the highest 0.061 in Georgian Jews) in some of the Israeli populations justify a clinical investigation to assess their risk for venous thrombosis. Principal Coordinates Analysis demonstrates that the Jewish populations are interspersed among the non-Jewish populations. The resemblance of some Jewish populations to certain non-Jewish populations coincides with findings based on classical markers.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1016/j.bcmd.2008.05.004 | DOI Listing |
Clin Appl Thromb Hemost
August 2024
Thrombotic Centre, Institute of Medical Biochemistry and Laboratory Diagnostics, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic.
Introduction: Chronic thromboembolic pulmonary hypertension (CTEPH) and venous thromboembolism (VTE) are thought to share many common risk factors. Our study aimed to determine the frequencies of 5 thrombosis-related gene single nucleotide polymorphisms (SNPs) associated with VTE in patients with CTEPH (n 129) compared with a control group of healthy individuals without a history of VTE (n 2637).
Methods: The SNPs of the following genes were investigated: (F V Leiden, rs6025), prothrombin (rs1799963), fibrinogen gamma (FGG, rs2066865), (rs2289252) and (non-O, rs8176719) in both groups.
Combined thrombophilia represents 7.8-8.3% of the patients with thrombophilia and confers a higher risk for thrombosis development and recurrence.
View Article and Find Full Text PDFIndian J Hematol Blood Transfus
April 2024
Department of Hematology, Level 5, Research Block A, Postgraduate Institute of Medical Education and Research (PGIMER), Sector 12, Chandigarh, 160012 India.
J Pers Med
April 2024
Unit of Obstetrics and Gynecology, "Paolo Giaccone" Hospital, 90127 Palermo, Italy.
Background: Despite pregnancy's hypercoagulable state, the correlation between inherited thrombophilia and thrombotic adverse pregnancy outcomes remains uncertain. The objective of this study was to determine the prevalence of inherited thrombophilic polymorphisms among asymptomatic pregnant individuals and to examine their potential correlation with adverse perinatal outcomes.
Methods: in this single-center prospective study, 105 healthy pregnant women were included.
J Clin Med
December 2023
Institute of Clinical Chemistry, University Hospital of Kiel & Lübeck, 23538 Lübeck, Germany.
Background: Congenital factor VII (FVII) deficiency, a rare bleeding disorder resulting from mutations in the F7 gene with autosomal recessive inheritance, exhibits clinical heterogeneity that lacks a strong correlation with FVII:C levels. The objective of this study was to discern genetic defects and assess their associations with the clinical phenotype in a substantial cohort comprising 785 white women exhibiting FVII:C levels below the age-dependent cut-off percentage.
Patients And Methods: Individuals with verified inherited factor VII deficiency underwent i) genotyping using the Sanger method and multiplex ligation-dependent probe amplification (MLPA) to identify F7 mutations, including common polymorphic variants.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!