Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.1.30.2 (endonuclease)
 18,621 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Simple, low-cost and accurate genotyping methods for single nucleotide polymorphisms (SNPs) are in high demand in the post-genome-sequencing era. We present a graphical tool called SNPicker, implemented in Java, which significantly facilitates the design of mutagenic endonuclease restriction assays. SNPicker uses the online NEB REBASE to automatically scan for all possible designs of mutagenic primers that can facilitate the picking of mismatched PCR primers to artificially introduce or abolish a restriction site at the target SNP site. We successfully applied SNPicker in designing endonuclease restriction assays for 14 SNPs for the MTHFR gene, the Coagulation Factor II gene and the Coagulation Factor V gene. The SNP assays designed using SNPicker were cross-validated using the MassARRAY technology.
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PMID:SNPicker: a graphical tool for primer picking in designing mutagenic endonuclease restriction assays. 1520 Nov 86

During the last years several genetic markers have appeared which were extensively studied for their clinical consequences and impact. Therefore, we developed 14 new genetic tests using the TaqMan technology. The new test systems detect the alpha1-antitrypsin, ACE, apolipoprotein B-100, apolipoprotein E, factor V Leiden, prothrombin, HFE, MTHFR, COL1A1, VDR and HLA-B27 mutations. These new kits were compared to the established endonuclease restriction digestion and flow cytometry, respectively. The results showed, that the allelic discrimination assays (TaqMan method) were in 100% concordance with the formerly used digestion method. Flow cytometry revealed a lower specificity in contrast to the TaqMan PCR system. Thus, it could be demonstrated that the new TaqMan assays are robust, rapid and automated methods for high throughput applications which avoid time consuming (and therefore expensive) and difficult post-PCR steps.
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PMID:A highly reproducible and economically competitive SNP analysis of several well characterized human mutations. 1520 39

The etiology of Perthes' disease is unclear. Recent reports have suggested that inheritable thrombophilic disorders may be one of its pathogenetic causes. The G20210A prothrombin gene, factor V Leiden, and MTHFR C677T mutations have been identified as predisposing genetic factors for thrombosis. Ninety children diagnosed with Perthes' disease were studied. A family history of thrombosis and any other personal thromboembolic events were researched. PCR and endonuclease digestion were used to analyze factor V Leiden, prothrombin G20210A, and MTHFR C677T. Two hundred healthy donors were included as a control group. No patient had a family or personal history of early thrombotic events. Four children with Perthes' disease (4.4%) were heterozygous for G20210A polymorphism compared with controls (odds ratio: 2.07; 95% confidence interval: 0.40-8.46). No association between factor V Leiden and Perthes' disease was observed. Three patients (3.33%) were heterozygous for factor V Leiden (odds ratio: 1.36; 95% confidence interval: 0.32-5.84). The prevalence of different genotypes of C677T MTHFR did not show statistical differences compared with controls. Eleven patients were homozygous for this polymorphism (odds ratio: 1.02; 95% confidence interval: 0.42-2.44). This study does not support the screening of this group of polymorphism in patients with Perthes' disease.
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PMID:Legg-perthes disease and heritable thrombophilia. 1595 94

Single-nucleotide polymorphisms in the genes that code for coagulation factors V (factor V Leiden) and II (prothrombin, G20210A), as well as the methylenetetrahydrofolate reductase (MTHFR, C677T) gene, have been implicated in the majority of cases of hereditary thrombophilia. We have developed a multiplex PCR-RFLP assay based on MnlI endonuclease digestion for the simultaneous detection of mutations in the FV, FII, and MTHFR genes. Digested amplification products were analyzed by gel electrophoresis in a single gel lane and visualized by ethidium bromide. This approach is a rapid and convenient method, hence economic, that alternate to others described for the detection of FVL, G20210A and C677T mutations.
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PMID:Primer-engineered multiplex PCR-RFLP for detection of MTHFR C677T, prothrombin G20210A and factor V Leiden mutations. 1727 7