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

Pecheniuk, N. M., Walsh, T. P., and Marsh, N. A. (2000) DNA technology for the detection of common genetic variants that predispose to thrombophilia. Blood Coagulation and Fibrinolysis, 11 (8). pp. 683-7000.

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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 xtent, 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.

Item ID: 8421
Item Type: Article (Research - C1)
ISSN: 1473-5733
Keywords: thrombophilia; DNA technology; factor V Leiden; prothrombin 20210; methylene tetrahydrofolate reductase; polymerase chain reaction; restriction fragment length polymorphism; minisequencing
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Date Deposited: 30 Mar 2010 01:57
FoR Codes: 11 MEDICAL AND HEALTH SCIENCES > 1102 Cardiovascular Medicine and Haematology > 110299 Cardiovascular Medicine and Haematology not elsewhere classified @ 50%
10 TECHNOLOGY > 1004 Medical Biotechnology > 100402 Medical Biotechnology Diagnostics (incl Biosensors) @ 40%
06 BIOLOGICAL SCIENCES > 0604 Genetics > 060499 Genetics not elsewhere classified @ 10%
SEO Codes: 97 EXPANDING KNOWLEDGE > 970111 Expanding Knowledge in the Medical and Health Sciences @ 75%
97 EXPANDING KNOWLEDGE > 970110 Expanding Knowledge in Technology @ 20%
97 EXPANDING KNOWLEDGE > 970106 Expanding Knowledge in the Biological Sciences @ 5%
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