DNA technology for the detection of common genetic variants that predispose to thrombophilia

Pecheniuk, N. M., Walsh, Terence Patrick, & Marsh, N. A. (2000) DNA technology for the detection of common genetic variants that predispose to thrombophilia. Blood Coagulation and Fibrinolysis, 11(8), pp. 683-700.

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With the identification of common single locus point mutations as risk factors for thrombophilia, many DNA testing methodologies have been described for detecting these variations. Traditionally, functional or immunological testing methods have been used to investigate quantitative anticoagulant deficiencies. However, with the emergence of the genetic variations, factor V Leiden, prothrombin 20210 and, to a lesser extent, the methylene tetrahydrofolate reductase (MTHFR677) and factor V HR2 haplotype, traditional testing methodologies have proved to be less useful and instead DNA technology is more commonly employed in diagnostics. This review considers many of the DNA techniques that have proved to be useful in the detection of common genetic variants that predispose to thrombophilia. Techniques involving gel analysis are used to detect the presence or absence of restriction sites, electrophoretic mobility shifts, as in single strand conformation polymorphism or denaturing gradient gel electrophoresis, and product formation in allele-specific amplification. Such techniques may be sensitive, but are unwielding and often need to be validated objectively. In order to overcome some of the limitations of gel analysis, especially when dealing with larger sample numbers, many alternative detection formats, such as closed tube systems, microplates and microarrays (minisequencing, real-time polymerase chain reaction, and oligonucleotide ligation assays) have been developed. In addition, many of the emerging technologies take advantage of colourimetric or fluorescence detection (including energy transfer) that allows qualitative and quantitative interpretation of results. With the large variety of DNA technologies available, the choice of methodology will depend on several factors including cost and the need for speed, simplicity and robustness. © 2000 Lippincott Williams & Wilkins.

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14 citations in Web of Science®
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ID Code: 43503
Item Type: Journal Article
Refereed: Yes
Keywords: DNA technology, Factor V Leiden, Methylene tetrahydrofolate reductase, Minisequencing, Polymerase chain reaction, Prothrombin 20210, Restriction fragment length polymorphism, Thrombophilia, 5, 10 methylenetetrahydrofolate reductase (FADH2), blood clotting factor 5 Leiden, prothrombin, conformational transition, DNA determination, electrophoretic mobility, enzyme immunoassay, gel electrophoresis, gene frequency, gene locus, genetic analysis, genetic predisposition, genetic variability, haplotype, point mutation, priority journal, restriction mapping, review, sequence analysis, single strand conformation polymorphism, DNA, Genetic Predisposition to Disease, Humans, Nucleic Acid Amplification Techniques, Variation (Genetics)
ISSN: 0957-5235
Divisions: Past > QUT Faculties & Divisions > Faculty of Science and Technology
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Lippincott, Williams & Wilkins
Deposited On: 22 Jul 2011 06:21
Last Modified: 17 Mar 2015 02:17

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