ArticleMolecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology2003
Evaluation of temperature gradient capillary electrophoresis for detection of the Factor V Leiden mutation: coincident identification of a novel polymorphism in Factor V.
Article in Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 22 citations in OpenAlex.
- Efficient gene-driven germ-line point mutagenesis of C57BL/6J mice.BMC genomics · 2005Article
- Temperature gradient capillary electrophoresis (TGCE)--a tool for the high-throughput discovery and mapping of SNPs and IDPs.TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik · 2005Article
- Efficient and fast targeted production of murine models based on ENU mutagenesis.Mammalian genome : official journal of the International Mammalian Genome Society · 2005Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimThe Factor V Leiden mutation (G1691A) is a clinically important polymorphism that results in an increased risk of thrombosis. The goal of this study was to compare a temperature gradient capillary electrophoresis (TGCE) platform for the detection of Factor V gene mutations to a conventional restriction fragment length polymorphism (RFLP) assay.
methodsThree hundred and four samples were analyzed by both TGCE and a common clinical Mnl I/RFLP assay. Concordance of results between the two assays was observed for 302/304 (99.3%) of the samples.
resultsAll of the Leiden mutants (23/23, 100%) were identified by TGCE. Of the two discrepant results, one was caused by low peak heights in the TGCE output data and was easily rectified by the addition of a minimum peak height threshold. The second discrepancy resulted from the presence of a G-->A transition 95 bp downstream of the Leiden mutation site. This polymorphism represents a previously unreported alteration of the Factor V gene.
conclusionsThe TGCE assay is less labor-intensive and has a higher throughput capacity than the Mnl I/RFLP assay. TGCE is a less specific assay than the Mnl I/RFLP assay that allows for the detection of novel polymorphisms, but also creates the need for all positive TGCE results to be confirmed by an alternate method such as sequencing. Our results demonstrate that TGCE is a highly sensitive method for mutation detection and has utility for mutation discovery analysis.
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