Multiple analysis of three common genetic alterations associated with thrombophilia

Pecheniuk, Natalie M, Marsh, Neville A, and Walsh, Terence P (2000) Multiple analysis of three common genetic alterations associated with thrombophilia. Blood Coagulation and Fibrinolysis, 11. 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.

Item ID: 8435
Item Type: Article (Research - C1)
ISSN: 0957-5235
Keywords: thrombophilia; factor V Leiden; prothrombin 20210; thermolabile methylene tetrahydrofolate reductase; mini-sequencing; first nucleotide change technology
Date Deposited: 30 Mar 2010 02:51
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 > 970106 Expanding Knowledge in the Biological Sciences @ 45%
97 EXPANDING KNOWLEDGE > 970111 Expanding Knowledge in the Medical and Health Sciences @ 45%
92 HEALTH > 9201 Clinical Health (Organs, Diseases and Abnormal Conditions) > 920103 Cardiovascular System and Diseases @ 10%
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