Polymorphisms in coagulation factor genes and their impact on arterial and venous thrombosis

Endler, Georg; Mannhalter, Christine

doi:10.1016/s0009-8981(03)00022-6

Cited by 102 publications

(82 citation statements)

References 198 publications

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“…The factor V Leiden and prothrombin G20210A polymorphisms are established risk factors for thrombosis (1,2 ). General screening for these polymorphisms in persons with additional risk factors has been discussed (3 ), but a significant proportion of familial cases with deep vein thrombosis/venous thromboembolism is not explained by carriage of either of these mutations (4 ).…”

mentioning

confidence: 99%

“…The RET gene encodes a transmembrane receptor tyrosine kinase, RET (1,2 ), which is produced by enteric nervous system progenitors and functions, together with glial cell-line-derived neurotrophic factor (GDNF) family receptors, as the receptor for GDNF family ligands (3 ). Ligand binding induces RET dimerization, autophosphorylation of the tyrosine kinase (TK) domains, and intracellular signaling (3 ).…”

mentioning

confidence: 99%

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Pyrosequencing Analysis of Thrombosis-Associated Risk Markers

Holmberg

Persson²,

Uhlén

et al. 2005

Clinical Chemistry

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confidence: 99%

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confidence: 99%

Pyrosequencing Analysis of Thrombosis-Associated Risk Markers

Holmberg

Persson²,

Uhlén

et al. 2005

Clinical Chemistry

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“…Both mutations are considered independent risk factors for venous thrombosis 14 . The G20210A mutation appearing in the 3´ untranslated region of the FII gene elevates plasma prothrombin concentrations 15 .…”

Section: Discussionmentioning

confidence: 99%

Preparing compound heterozygous reference material using gene synthesis technology: a model of thrombophilic mutations

Beránek¹,

Drastíková²,

Dulíček³

et al. 2014

BIOMED PAP

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Aims. The aim of our study is to present a novel approach for preparing a compound heterozygous reference material (hetRM) using gene synthesis technology with inverted insertion of wild-type and mutant fragments into a single cloning vector. Factor II (G20210A) and Factor V (G1691A Leiden) gene mutations were used as an experimental model. Methods. During the gene synthesis, DNA fragments were aligned in the following order: G1691 FV wild-type forward strain, G20210 FII wild-type forward strain, 1691A FV mutant reverse strain, 20210A FII mutant reverse strain. The complete chain was inserted into a pIDT SMART cloning vector and amplified in an E. coli competent strain. For assessing hetRM characteristics and commutability, we used real-time PCR with subsequent melting curve analysis, real-time PCR with hydrolysis probes, allele-specific amplification, reverse hybridization, and dideoxynucleotide DNA sequencing. Result. All five methods yielded concordant results of DNA analysis of the hetRM. Differences in real-time PCR cycle threshold values after six-months of storage at -80 °C were not statistically significant from those obtained from freshly prepared hetRM aliquots, which is a good indication of their stability. Conclusion. By applying the procedures of gene synthesis and cloning technology, we prepared and verified a model genetic reference material for FII G20210A and FV G1691A testing with a compound heterozygous genotype. The hetRM was stable, commutable, and available in large quantities and in a wide concentration range.

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“…Carriers of this mutation have significantly higher mean plasma prothrombin levels (9). Since the first publication of the G20210A mutation, it has been demonstrated in a number of publications that this genetic variant is a significant and independent risk factor for venous thromboembolism (VTE) (10). The clinical significance of this mutation, the indications for testing and the therapeutic consequences have been elucidated (11).…”

Section: Background Selection Of Prothrombin G20210a Mutation As Targetmentioning

confidence: 99%

Reference materials (RMs) for analysis of the human factor II (prothrombin) gene G20210A mutation

Klein¹,

Márki-Zay²,

Corbisier³

et al. 2005

Clinical Chemistry and Laboratory Medicine (CCLM)

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The Scientific Committee of Molecular Biology Techniques (C-MBT) in Clinical Chemistry of the IFCC has initiated a joint project in co-operation with the European Commission, Joint Research Centre, Institute of Reference Materials and Measurements to develop and produce plasmid-type reference materials (RMs) for the analysis of the human prothrombin gene G20210A mutation. Although DNA tests have a high impact on clinical decision-making and the number of tests performed in diagnostic laboratories is high, issues of quality and quality assurance exist, and currently only a few RMs for clinical genetic testing are available. A gene fragment chosen was produced that spans all primer annealing sites published to date. Both the wild-type and mutant alleles of this gene fragment were cloned into a pUC18 plasmid and two plasmid RMs were produced. In addition, a mixture of both plasmids was produced to mimic the heterozygous genotype. The present study describes the performance of these reference materials in a commutability study, in which they were tested by nine different methods in 13 expert laboratories. This series of plasmid RMs are, to the best of our knowledge, the first plasmid-type clinical genetic RMs introduced worldwide.

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Polymorphisms in coagulation factor genes and their impact on arterial and venous thrombosis

Cited by 102 publications

References 198 publications

Pyrosequencing Analysis of Thrombosis-Associated Risk Markers

Pyrosequencing Analysis of Thrombosis-Associated Risk Markers

Preparing compound heterozygous reference material using gene synthesis technology: a model of thrombophilic mutations

Reference materials (RMs) for analysis of the human factor II (prothrombin) gene G20210A mutation

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