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VAL34LEU POLYMORPHISM DETECTION BY REAL TIME PCR ASSAY USING FLUORESCENCE RESONANCE ENERGY TRANSFER ON ROTOR-GENE 6000

Year 2016, Volume: 1 Issue: 1, 15 - 19, 26.01.2016
https://doi.org/10.23884/ijhsrp.2016.1.1.02

Abstract

Factor XIII (FXIII) Val34Leu is the most important

polymorphism of the A subunit in factor XIII gene. The aim of the present

study was to develop an efficient method based on real time PCR with

Fluorescence resonance energy transfer (FRET) detection and melting curve

analysis for the detection of Val34Leu polymorphism.

Specific primers were used to amplify the relevant fragment of the factor

XIII-A gene and fluorescence resonance energy transfer hybridization

probes were used for detection in a Rotor-Gene Q 5Plex HRM platform.

Melting temperature (Tm) for the wild type was at 68.8, while Tm for

homozygote mutant was at 63.8; heterozygote demonstrated both peaks.

Our results showed that primers and probes propoesd in this study

demonstrated a high specificity to identify wild type , heterozygous and

homozygous mutantgenotypes.

Due to the increasing molecular diagnosis in developing countries and the

importance of identifying polymorphisms, this real time PCR assay is of

great importance. An important advantage of this approach is the high

sensitivity and specificity.

References

  • [1] Greenberg CS, Sane DC & Lai T-S., Factor XIII and fibrin stabilization. In: Colman RW, Clowes AW, Goldhaber SZ, Marder VJ, George JN, eds. Hemostasis and Thrombosis,4th ed. Lippincott Williams and Wilkins, Philadelphia, USA, 2006, pp.317-334
  • [2] Muszbek L, Bagoly Z, Bereczky Z & Katona E., The involvement of blooad coagulation factor XIII in fibrinolysis and thrombosis, Cardiovasc Hematol Agents Med Chem. 6 (2008), 3, pp.190- 205
  • [3] Muszbek L, Yee VC & Hevessy Z.,. Blood coagulation factor XIII: structure and function. Thromb Res. 94 (1999), 5, pp.271-305
  • [4] Katona E, Haramura G, Karpati L, Fachet J & Muszbek L., A simple, quick one-step ELISA assay for the determination of complex plasma factor XIII (A2B2), Thromb Haemost 83 (2000), pp.268– 273.
  • [5] Board PG, Webb GC, McKee J & Ichinose A., Localization of the coagulation factor XIII A subunit gene (F13A) to chromosome bands 6p24–p25, Cytogenet Cell Genet.48(1988), pp.25–27.
  • [6] Ichinose A, Davie EW. Characterization of the gene for the a subunit of human factor XIII (plasma transglutaminase), a blood coagulation factor. Proc Nat1 Acad Sci U S A. 85 (1988), 16, pp.5829- 5833
  • [7] Bottenus RE, Ichinose A & Davie EW. Nucleotide sequence of the gene for the B subunit of human factor XIII. Biochemistry. 29 (1990), 1, pp.1195–1209.
  • [8] Webb GC, Coggan M, Ichinose A & Board PG., Locali- zation of the coagulation factor XIIIB subunit gene (F13B) to chromosome bands 1q31-32.1 and restric- tion fragment length polymorphism at the locus, Hum Genet. 81 (1989), pp.157–160.
  • [9] Board PG., Genetic polymorphism of the B subunit of human coagulation factor XIII, Am J Hum Genet. 32(1980), 3, pp.348-353
  • [10] McCormack LJ, Kain K, Catto AJ, Kohler HP, Stickland MH & Grant PJ. (1998). Prevalence of FXIII V34L in populations with different cardiovascular risk. Thromb Haemost. 80: 523–524.
  • [11] Attie´-Castro FA, Zago MA, Lavinha J, Elion J, Rodriguez-Delfin L, Guerreiro JF, & Franco R. F, Ethnic heterogeneity of the factor XIII Val34Leu polymorphism. Thromb Haemost. 84 (2000), pp.601–603.
  • [12] Kohler HP, Stickland MH, Ossei Gerning N, Carter A, Mikkola H & Grant PJ., Association of a common polymorphism in the factor XIII gene with myocardial infarction, Thromb Haemost. 79 (1998), pp.8-13
  • [13] Hsieh L & Nugent D.. Factor XIII deficiency. Haemophilia. 14 (2008), pp.1190-1200.
  • [14] Catto AJ, Kohler HP, Coore J, Mansfield MW, Stickland MH & Grant PJ., Association of a common polymorphism in the factor XIII gene with venous thrombosis, Blood. 93(1999), pp.906- 908.
  • [15] Franco RF, Reitsma PH, Lourenço D, Maffei FH, Morelli V, Tavella MH, Zago MA, Factor XIII Val34Leu is a genetic factor involved in the etiology of venous thrombosis, Thromb Haemost. 81 (1999), pp.676-679.
  • [16] Cushman M, Cornell A, Folsom AR, Wang L, Tsai MY, Polak J & Tang Z., Associations of the beta-fibrinogen Hae III and factor XIII Val34Leu gene variants with venous thrombosis, Thromb Res. 121 (2007), pp.339-345.
  • [17] Balogh I, Szoke G, Karpati L, Wartiovaara U, Katona E, Komaromi I, Muszbek L., Val34Leu polymorphism of plasma factor XIII: biochemistry and epidemiology in familial thrombophilia, Blood. (2000), 96, pp. 2479-2486.
  • [18] Corral J, Gonzalez-Conejero R, Iniesta JA, Rivera J, Martinez C & Vicente V.. The FXIII Val34Leu polymorphism in venous and arterial thromboembolism. Haematologica. 85 (2000), pp. 293-297.
  • [19] Anwar R, Gallivan L, Edmonds SD & Markham AS., Genotype/phenotype correlation for coagulation factor XIII: specific normal polymorphisms are associated with high or low factor XIII specific activity, Blood. 93 (1999), pp.897–905
  • [20] Bargahi N, Poursadegh Zonouzi A, Fardmanesh H, Ghorbian S & Poursadegh Zonouzi AA., The association of Factor XIII 100 G/T polymorphism and the risk of deep venous thromboembolism: An in silico and experimental study, Molecular Medicine Journal, 1 (2015), 1, pp.14-19
  • [21] Henry M, Morange PE, Canavy I, Alessi MC & Juhan-Vauge I., Rapid detection of factor XIII Val34Leu by allele specific PCR., ThrombHaemost. 81 (1999), pp.46
  • [22] Kangsadalampai S & Board PG. The Val34Leu polymorphism in the A subunit of coagulation factor XIII contributes to the large normal range in activity and demonstrates that the activation peptide plays a role in catalytic activity. Blood. 92 (1998), pp.2766–2770.
Year 2016, Volume: 1 Issue: 1, 15 - 19, 26.01.2016
https://doi.org/10.23884/ijhsrp.2016.1.1.02

Abstract

References

  • [1] Greenberg CS, Sane DC & Lai T-S., Factor XIII and fibrin stabilization. In: Colman RW, Clowes AW, Goldhaber SZ, Marder VJ, George JN, eds. Hemostasis and Thrombosis,4th ed. Lippincott Williams and Wilkins, Philadelphia, USA, 2006, pp.317-334
  • [2] Muszbek L, Bagoly Z, Bereczky Z & Katona E., The involvement of blooad coagulation factor XIII in fibrinolysis and thrombosis, Cardiovasc Hematol Agents Med Chem. 6 (2008), 3, pp.190- 205
  • [3] Muszbek L, Yee VC & Hevessy Z.,. Blood coagulation factor XIII: structure and function. Thromb Res. 94 (1999), 5, pp.271-305
  • [4] Katona E, Haramura G, Karpati L, Fachet J & Muszbek L., A simple, quick one-step ELISA assay for the determination of complex plasma factor XIII (A2B2), Thromb Haemost 83 (2000), pp.268– 273.
  • [5] Board PG, Webb GC, McKee J & Ichinose A., Localization of the coagulation factor XIII A subunit gene (F13A) to chromosome bands 6p24–p25, Cytogenet Cell Genet.48(1988), pp.25–27.
  • [6] Ichinose A, Davie EW. Characterization of the gene for the a subunit of human factor XIII (plasma transglutaminase), a blood coagulation factor. Proc Nat1 Acad Sci U S A. 85 (1988), 16, pp.5829- 5833
  • [7] Bottenus RE, Ichinose A & Davie EW. Nucleotide sequence of the gene for the B subunit of human factor XIII. Biochemistry. 29 (1990), 1, pp.1195–1209.
  • [8] Webb GC, Coggan M, Ichinose A & Board PG., Locali- zation of the coagulation factor XIIIB subunit gene (F13B) to chromosome bands 1q31-32.1 and restric- tion fragment length polymorphism at the locus, Hum Genet. 81 (1989), pp.157–160.
  • [9] Board PG., Genetic polymorphism of the B subunit of human coagulation factor XIII, Am J Hum Genet. 32(1980), 3, pp.348-353
  • [10] McCormack LJ, Kain K, Catto AJ, Kohler HP, Stickland MH & Grant PJ. (1998). Prevalence of FXIII V34L in populations with different cardiovascular risk. Thromb Haemost. 80: 523–524.
  • [11] Attie´-Castro FA, Zago MA, Lavinha J, Elion J, Rodriguez-Delfin L, Guerreiro JF, & Franco R. F, Ethnic heterogeneity of the factor XIII Val34Leu polymorphism. Thromb Haemost. 84 (2000), pp.601–603.
  • [12] Kohler HP, Stickland MH, Ossei Gerning N, Carter A, Mikkola H & Grant PJ., Association of a common polymorphism in the factor XIII gene with myocardial infarction, Thromb Haemost. 79 (1998), pp.8-13
  • [13] Hsieh L & Nugent D.. Factor XIII deficiency. Haemophilia. 14 (2008), pp.1190-1200.
  • [14] Catto AJ, Kohler HP, Coore J, Mansfield MW, Stickland MH & Grant PJ., Association of a common polymorphism in the factor XIII gene with venous thrombosis, Blood. 93(1999), pp.906- 908.
  • [15] Franco RF, Reitsma PH, Lourenço D, Maffei FH, Morelli V, Tavella MH, Zago MA, Factor XIII Val34Leu is a genetic factor involved in the etiology of venous thrombosis, Thromb Haemost. 81 (1999), pp.676-679.
  • [16] Cushman M, Cornell A, Folsom AR, Wang L, Tsai MY, Polak J & Tang Z., Associations of the beta-fibrinogen Hae III and factor XIII Val34Leu gene variants with venous thrombosis, Thromb Res. 121 (2007), pp.339-345.
  • [17] Balogh I, Szoke G, Karpati L, Wartiovaara U, Katona E, Komaromi I, Muszbek L., Val34Leu polymorphism of plasma factor XIII: biochemistry and epidemiology in familial thrombophilia, Blood. (2000), 96, pp. 2479-2486.
  • [18] Corral J, Gonzalez-Conejero R, Iniesta JA, Rivera J, Martinez C & Vicente V.. The FXIII Val34Leu polymorphism in venous and arterial thromboembolism. Haematologica. 85 (2000), pp. 293-297.
  • [19] Anwar R, Gallivan L, Edmonds SD & Markham AS., Genotype/phenotype correlation for coagulation factor XIII: specific normal polymorphisms are associated with high or low factor XIII specific activity, Blood. 93 (1999), pp.897–905
  • [20] Bargahi N, Poursadegh Zonouzi A, Fardmanesh H, Ghorbian S & Poursadegh Zonouzi AA., The association of Factor XIII 100 G/T polymorphism and the risk of deep venous thromboembolism: An in silico and experimental study, Molecular Medicine Journal, 1 (2015), 1, pp.14-19
  • [21] Henry M, Morange PE, Canavy I, Alessi MC & Juhan-Vauge I., Rapid detection of factor XIII Val34Leu by allele specific PCR., ThrombHaemost. 81 (1999), pp.46
  • [22] Kangsadalampai S & Board PG. The Val34Leu polymorphism in the A subunit of coagulation factor XIII contributes to the large normal range in activity and demonstrates that the activation peptide plays a role in catalytic activity. Blood. 92 (1998), pp.2766–2770.
There are 22 citations in total.

Details

Primary Language English
Subjects Health Care Administration
Journal Section Article
Authors

Maryam Naser Kamjoo

Ali Nazemı This is me

Publication Date January 26, 2016
Submission Date October 13, 2015
Published in Issue Year 2016 Volume: 1 Issue: 1

Cite

IEEE M. N. Kamjoo and A. Nazemı, “VAL34LEU POLYMORPHISM DETECTION BY REAL TIME PCR ASSAY USING FLUORESCENCE RESONANCE ENERGY TRANSFER ON ROTOR-GENE 6000”, IJHSRP, vol. 1, no. 1, pp. 15–19, 2016, doi: 10.23884/ijhsrp.2016.1.1.02.

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