Multiple analysis of three common genetic alterations associated with thrombophilia

Pecheniuk, N. M., Marsh, N. A., & Walsh, Terence Patrick (2000) Multiple analysis of three common genetic alterations associated with thrombophilia. Blood Coagulation and Fibrinolysis, 11(2), pp. 183-189.

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We have previously reported the use of a novel mini-sequencing protocol for detection of the factor V Leiden variant, the first nucleotide change (FNC) technology. This technology is based on a single nucleotide extension of a primer, which is hybridized immediately adjacent to the site of mutation. The extended nucleotide that carries a reporter molecule (fluorescein) has the power to discriminate the genotype at the site of mutation. More recently, the prothrombin 20210 and thermolabile methylene tetrahydrofolate reductase (MTHFR) 677 variants have been identified as possible risk factors associated with thrombophilia. This study describes the use of the FNC technology in a combined assay to detect factor V, prothrombin and MTHFR variants in a population of Australian blood donors, and describes the objective numerical methodology used to determine genotype cut-off values for each genetic variation. Using FNC to test 500 normal blood donors, the incidence of Factor V Leiden was 3.6% (all heterozygous), that of prothrombin 20210 was 2.8% (all heterozygous) and that of MTHFR was 10% (homozygous). The combined FNC technology offers a simple, rapid, automatable DNA-based test for the detection of these three important mutations that are associated with familial thrombophilia. (C) 2000 Lippincott Williams and Wilkins.

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15 citations in Scopus
13 citations in Web of Science®
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ID Code: 43504
Item Type: Journal Article
Refereed: Yes
Keywords: Factor V Leiden, First nucleotide change technology, Mini-sequencing, Prothrombin 20210, Thermolabile methylene tetrahydrofolate reductase, Thrombophilia, 5, 10 methylenetetrahydrofolate reductase (FADH2), blood clotting factor 5 Leiden, fluorescein, prothrombin, article, Australia, blood donor, controlled study, genetic variability, genotype, heterozygote, homozygote, human, nucleic acid base substitution, nucleic acid hybridization, nucleotide sequence, point mutation, priority journal, risk factor, vein thrombosis, Adenine, Biotechnology, DNA, Factor V, Guanine, Humans, Methylenetetrahydrofolate Reductase (NADPH2), Oxidoreductases Acting on CH-NH Group Donors, Polymerase Chain Reaction, Spectrophotometry, Variation (Genetics), Venous Thrombosis
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 06:27
Last Modified: 13 Jul 2017 15:01

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