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., and 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.

Item ID: 8440
Item Type: Article (Research - C1)
ISSN: 1473-5733
Keywords: factor V Leiden; activated protein C resistance; thrombophilia; first nucleotide change technology
Date Deposited: 02 Sep 2010 06:46
FoR Codes: 10 TECHNOLOGY > 1004 Medical Biotechnology > 100402 Medical Biotechnology Diagnostics (incl Biosensors) @ 80%
11 MEDICAL AND HEALTH SCIENCES > 1102 Cardiovascular Medicine and Haematology > 110299 Cardiovascular Medicine and Haematology not elsewhere classified @ 20%
SEO Codes: 97 EXPANDING KNOWLEDGE > 970106 Expanding Knowledge in the Biological Sciences @ 90%
92 HEALTH > 9201 Clinical Health (Organs, Diseases and Abnormal Conditions) > 920101 Blood Disorders @ 10%
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