Rapid combined genotyping of factor V, prothrombin and methylenetetrahydrofolate reductase single nucleotide polymorphisms using minor groove binding DNA oligonucleotides (MGB probes) and real-time polymerase chain reaction
| LEADER | caa a22 4500 | ||
|---|---|---|---|
| 001 | 378898248 | ||
| 003 | CHVBK | ||
| 005 | 20180305123511.0 | ||
| 007 | cr unu---uuuuu | ||
| 008 | 161128e20041201xx s 000 0 eng | ||
| 024 | 7 | 0 | |a 10.1515/CCLM.2004.255 |2 doi |
| 035 | |a (NATIONALLICENCE)gruyter-10.1515/CCLM.2004.255 | ||
| 245 | 0 | 0 | |a Rapid combined genotyping of factor V, prothrombin and methylenetetrahydrofolate reductase single nucleotide polymorphisms using minor groove binding DNA oligonucleotides (MGB probes) and real-time polymerase chain reaction |h [Elektronische Daten] |c [Magali Louis, Anne France Dekairelle, Jean-Luc Gala] |
| 520 | 3 | |a Risk factors for cardiovascular diseases and venous thromboembolism involve both acquired and hereditary conditions. Among the latter, mutations in genes coding for coagulation factors (factor V Leiden [Arg506Gly], G20210A in the 3′-untranslated region of factor II) and variant C677T of the methylenetetrahydrofolate reductase (MTHFR) are often involved and co-inherited. These three factors were genotyped simultaneously in the same 96-well plate, using a real-time polymerase chain reaction (PCR) Taqman® assay and minor groove binding DNA oligonucleotides (MGB probes). While primers and MGB probes matched their corresponding single nucleotide polymorphism (SNP), the real-time MGB program was identical for each target gene. Homozygous wild-type (WT; −/−), heterozygous (+/−) or homozygous (+/+) variants (n=362) were selected for factor V (n=115, with −/−, 40; +/−, 40; +/+, 35), factor II (n=122, with −/−, 60; +/−, 60; +/+, 2), and MTHFR (n=120, with −/−, 40; +/−, 40; +/+, 40), according to the results of conventional PCR-restriction fragment length polymorphism (PCR-RFLP), but the allelic discrimination was performed blind. Results of the real-time MGB and PCR-RFLP assays were identical. This new assay was easy and fast with high throughput, without risk of molecular carryover, and cost-effective for laboratories utilizing the Taqman or related fluorescence reading methods. These advantages make it particularly suitable for large-scale combined genotyping of several polymorphisms in the routine setting. | |
| 540 | |a ©2004 by Walter de Gruyter Berlin New York | ||
| 690 | 7 | |a Medical equipment & techniques |2 nationallicence | |
| 690 | 7 | |a Medical diagnosis |2 nationallicence | |
| 690 | 7 | |a Diseases & disorders |2 nationallicence | |
| 690 | 7 | |a minor groove binder |2 nationallicence | |
| 690 | 7 | |a mutation detection |2 nationallicence | |
| 690 | 7 | |a real-time polymerase chain reaction (PCR) |2 nationallicence | |
| 690 | 7 | |a single nucleotide polymorphism |2 nationallicence | |
| 690 | 7 | |a thrombosis |2 nationallicence | |
| 700 | 1 | |a Louis |D Magali |u Laboratory of Applied Molecular Technology, Center for Human Genetics, Université catholique de Louvain, Brussels, Belgium |4 aut | |
| 700 | 1 | |a Dekairelle |D Anne France |u Laboratory of Applied Molecular Technology, Center for Human Genetics, Université catholique de Louvain, Brussels, Belgium |4 aut | |
| 700 | 1 | |a Gala |D Jean-Luc |u Laboratory of Applied Molecular Technology, Center for Human Genetics, Université catholique de Louvain, Brussels, Belgium and Defense Laboratories Department, Belgian Armed Forces, Brussels, Belgium |4 aut | |
| 773 | 0 | |t Clinical Chemical Laboratory Medicine |d Walter de Gruyter |g 42/12(2004-12-01), 1364-1369 |x 1434-6621 |q 42:12<1364 |1 2004 |2 42 |o cclm | |
| 856 | 4 | 0 | |u https://doi.org/10.1515/CCLM.2004.255 |q text/html |z Onlinezugriff via DOI |
| 908 | |D 1 |a research article |2 jats | ||
| 950 | |B NATIONALLICENCE |P 856 |E 40 |u https://doi.org/10.1515/CCLM.2004.255 |q text/html |z Onlinezugriff via DOI | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Louis |D Magali |u Laboratory of Applied Molecular Technology, Center for Human Genetics, Université catholique de Louvain, Brussels, Belgium |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Dekairelle |D Anne France |u Laboratory of Applied Molecular Technology, Center for Human Genetics, Université catholique de Louvain, Brussels, Belgium |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Gala |D Jean-Luc |u Laboratory of Applied Molecular Technology, Center for Human Genetics, Université catholique de Louvain, Brussels, Belgium and Defense Laboratories Department, Belgian Armed Forces, Brussels, Belgium |4 aut | ||
| 950 | |B NATIONALLICENCE |P 773 |E 0- |t Clinical Chemical Laboratory Medicine |d Walter de Gruyter |g 42/12(2004-12-01), 1364-1369 |x 1434-6621 |q 42:12<1364 |1 2004 |2 42 |o cclm | ||
| 900 | 7 | |b CC0 |u http://creativecommons.org/publicdomain/zero/1.0 |2 nationallicence | |
| 898 | |a BK010053 |b XK010053 |c XK010000 | ||
| 949 | |B NATIONALLICENCE |F NATIONALLICENCE |b NL-gruyter | ||