Use of first nucleotide change technology to determine the frequency of factor V Leiden in a population of Australian blood donors
Data(s) |
1997
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Resumo |
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. |
Identificador | |
Publicador |
Lippincott, Williams & Wilkins |
Relação |
http://journals.lww.com/bloodcoagulation/toc/1997/11000 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. |
Direitos |
Lippincott, Williams & Wilkins |
Fonte |
Institute of Health and Biomedical Innovation |
Palavras-Chave | #060100 BIOCHEMISTRY AND CELL BIOLOGY #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) |
Tipo |
Journal Article |