Home
  >  
Section 10
  >  
Chapter 9,418

Simple and rapid detection of factor V Leiden by allele-specific PCR amplification

Blasczyk, R.; Ritter, M.; Thiede, C.; Wehling, J.; Hintz, G.; Neubauer, A.; Riess, H.

Thrombosis and Haemostasis 75(5): 757-759

1996

ISSN/ISBN: 0340-6245
PMID: 8725719
Accession: 009417381
Download citation:  
Text
  |  
BibTeX
  |  
RIS
Resistance to activated protein C is the most common hereditary cause for thrombosis and significantly linked to factor V Leiden. In this study, primers were designed to identify the factor V mutation by allele-specific PCR amplification. 126 patients with thromboembolic events were analysed using this technique, PCR-RFLP and direct sequencing. The concordance between these techniques was 100%. In 27 patients a heterozygous factor VGln-506 mutation was detected, whereas one patient with recurrent thromboembolism was homozygous for the point mutation. Due to its time- and cost-saving features allele-specific amplification should be considered for screening of factor VGln-506.

PDF emailed within 1 workday: $29.90




Related References

Sasvari-Szekely, M.; Gerstner, A.; Ronai, Z.; Staub, M.; Guttman, A. 2000: Rapid genotyping of factor V Leiden mutation using single-tube bidirectional allele-specific amplification and automated ultrathin-layer agarose gel electrophoresis Electrophoresis 21(4): 816-821
DelRio-LaFreniere, S.A.; McGlennen, R.C. 2001: Simultaneous allele-specific amplification: a strategy using modified primer-template mismatches for SNP detection--application to prothrombin 20210A (factor II) and factor V Leiden (1691A) gene mutations Molecular Diagnosis: a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology 6(3): 201-209
DelRio-LaFreniere, S. 2001: Simultaneous allele-specific amplification: a strategy using modified primer-template mismatches for SNP detection[mdash ]Application to prothrombin 20210A (factor II) and factor V Leiden (1691A) gene mutations Molecular Diagnosis 6(3): 201-209
Blasczyk, R.; Wehling, J.; Ritter, M.; Neubauer, A.; Riess, H. 1997: Allele-specific PCR amplification of factor V Leiden to identify patients at risk for thromboembolism Beitrage Zur Infusionstherapie und Transfusionsmedizin 34: 236-241
Olivi, M.; Ledford, M.; Sajus, M.; Meyer, D.; Vidaud, M.; Lavergne, J.M. 1997: Automatic method for detection of FV Leiden mutation using fluorescent primers and allele specific amplification British Journal of Haematology 97(Suppl 1): 80
Hézard, N.; Cornillet, P.; Vallade, A.; Nguyen, P. 1997: Detection of factor V Leiden using ASO (allele specific oligonucleotide) Thrombosis and Haemostasis 78(4): 1296
Zehnder, J.L.; Benson, R.C.; Cheng, S. 1997: A microplate allele-specific oligonucleotide hybridization assay for detection of factor V Leiden Diagnostic Molecular Pathology: the American Journal of Surgical Pathology Part B 6(6): 347-352
Sinclair, G.D.; Low, S.; Poon, M.C. 1997: A hemi-nested, allele specific, whole blood PCR assay for the detection of the factor V Leiden mutation Thrombosis and Haemostasis 77(6): 1154-1155
Zykova, E.S.; Patrushev, L.I.; Kaiushin, A.L.; Korosteleva, M.D.; Miroshnikov, A.I.; Bokarev, I.N.; Leont'ev, S.G.; Koshkin, V.M.; Severin, E.S. 1997: New allele-specific primers for detection of Leiden mutation in exon 10 of factor V gene in thrombophilias Bioorganicheskaia Khimiia 23(3): 205-210
Jiang, Z.; Shi, J.; Yang, S.; Zhang, C.; Jiang, H.; Chen, Z.; Jin, L.; Lu, D.; Huang, W. 2001: A simple and rapid new method for SNP typing by single-tube bi-directional allele specific amplification Zhonghua Yi Xue Yi Chuan Xue Za Zhi 18(4): 306-309
Bagheri, M.; Rad, I.A. 2011: A Multiplex Allele Specific Polymerase Chain Reaction (MAS-PCR) for the Detection of Factor V Leiden and Prothrombin G20210A Maedica 6(1): 3-9
Singpanomchai, N.; Akeda, Y.; Tomono, K.; Tamaru, A.; Santanirand, P.; Ratthawongjirakul, P. 2021: Rapid detection of multidrug-resistant tuberculosis based on allele-specific recombinase polymerase amplification and colorimetric detection Plos one 16(6): E0253235
Orum, H.; Jakobsen, M.H.; Koch, T.; Vuust, J.; Borre, M.B. 1999: Detection of the factor V Leiden mutation by direct allele-specific hybridization of PCR amplicons to photoimmobilized locked nucleic acids Clinical Chemistry 45(11): 1898-1905
Okayama, H.; Curiel, D.T.; Brantly, M.L.; Holmes, M.D.; Crystal, R.G. 1989: Rapid, nonradioactive detection of mutations in the human genome by allele-specific amplification Journal of Laboratory and Clinical Medicine 114(2): 105-113
Amalfitano, A.; Chamberlain, J.S. 1996: The mdx-amplification-resistant mutation system assay, a simple and rapid polymerase chain reaction-based detection of the mdx allele Muscle and Nerve 19(12): 1549-1553
Ozkan, D.; Erdem, A.; Kara, P.; Kerman, K.; Meric, B.; Hassmann, J.ör.; Ozsoz, M. 2002: Allele-specific genotype detection of factor V Leiden mutation from polymerase chain reaction amplicons based on label-free electrochemical genosensor Analytical Chemistry 74(23): 5931-5936
Tian, H.; Brody, L.C.; Fan, S.; Huang, Z.; Landers, J.P. 2001: Capillary and microchip electrophoresis for rapid detection of known mutations by combining allele-specific DNA amplification with heteroduplex analysis Clinical Chemistry 47(2): 173-185
Carrera, P.; Barbieri, A.M.; Ferrari, M.; Righetti, P.G.; Perego, M.; Gelfi, C. 1997: Rapid detection of 21-hydroxylase deficiency mutations by allele-specific in vitro amplification and capillary zone electrophoresis Clinical Chemistry 43(11): 2121-2127
Bienvenu, T.; Sebillon, P.; Labie, D. 1992: Rapid and direct detection of the most frequent Mediterranean b-thalassemic mutations by multiplex allele-specific enzymatic amplification Human Biology 64: 7-13
Bienvenu, T.; Sebillon, P.; Labie, D.; Kaplan, J.C.; Beldjord, C. 1992: Rapid and direct detection of the most frequent Mediterranean beta-thalassemic mutations by multiplex allele-specific enzymatic amplification Human Biology 64(1): 107-113