Use of first nucleotide change technology to determine the frequency of factor V Leiden in a population of Australian blood donors

Pecheniuk, N. M., Marsh, N. A., Walsh, T. P., & Dale, J. L. (1997) Use of first nucleotide change technology to determine the frequency of factor V Leiden in a population of Australian blood donors. Blood Coagulation and Fibrinolysis, 8(8), pp. 491-495.

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Activated protein C resistance (APCR), the most common risk factor for venous thrombosis, is the result of a G to A base substitution at nucleotide 1691 (R506Q) in the factor V gene. Current techniques to detect the factor V Leiden mutation, such as determination of restriction length polymorphisms, do not have the capacity to screen large numbers of samples in a rapid, cost- effective test. The aim of this study was to apply the first nucleotide change (FNC) technology, to the detection of the factor V Leiden mutation. After preliminary amplification of genomic DNA by polymerase chain reaction (PCR), an allele-specific primer was hybridised to the PCR product and extended using fluorescent terminating dideoxynucleotides which were detected by colorimetric assay. Using this ELISA-based assay, the prevalence of the factor V Leiden mutation was determined in an Australian blood donor population (n = 500). A total of 18 heterozygotes were identified (3.6%) and all of these were confirmed with conventional MnlI restriction digest. No homozygotes for the variant allele were detected. We conclude from this study that the frequency of 3.6% is compatible with others published for Caucasian populations. In addition, the FNC technology shows promise as the basis for a rapid, automated DNA based test for factor V Leiden.

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23 citations in Scopus
23 citations in Web of Science®
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ID Code: 43506
Item Type: Journal Article
Refereed: Yes
Keywords: Activated protein C resistance, Factor V Leiden, First nucleotide change technology, Thrombophilia, activated protein c, blood clotting factor 5, deoxyribonucleotide, article, australia, blood donor, colorimetry, dna determination, enzyme linked immunosorbent assay, gene amplification, gene mutation, heterozygosity, human, nucleic acid base substitution, polymerase chain reaction, priority journal, restriction fragment length polymorphism, technology, Adenine, Blood Donors, Factor V, Genetic Screening, Guanine, Humans, Mutation, Prevalence, Risk Factors, Variation (Genetics)
ISSN: 0957-5235
Subjects: Australian and New Zealand Standard Research Classification > BIOLOGICAL SCIENCES (060000) > BIOCHEMISTRY AND CELL BIOLOGY (060100)
Divisions: Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Lippincott, Williams & Wilkins
Deposited On: 22 Jul 2011 05:49
Last Modified: 25 Jul 2011 03:55

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