Rapid detection of the factor XIII Val34Leu (163 G→T) polymorphism by real-time PCR using fluorescence resonance energy transfer detection and melting curve analysis
-
Amir H. Shemirani
Abstract
The Val34Leu polymorphism in the A subunit of blood coagulation factor XIII (FXIII-A) is located in the activation peptide, just three amino acids upstream of the thrombin cleavage site. The Val→Leu replacement accelerates the rate of the proteolytic activation of FXIII and it seems to provide protection against myocardial infarction. Methods available for the assessment of the FXIII-A Val34Leu polymorphism are rather time-consuming, laborious and not easily applicable for large-scale studies. In this study a new method based on real-time PCR with fluorescence resonance energy transfer (FRET) detection and melting curve analysis was developed. The rapid, simple method was adapted to the widely used real-time PCR instrument, LightCycler (Roche Diagnostics). The results showed 100% coincidence with those obtained by the traditional PCR-restriction fragment length polymorphism (RFLP) assay and fluorescent DNA sequencing. Using this method, an allele frequency of 24.2% was obtained (n = 113), which well agrees with the allele frequency obtained by PCR-RFLP on a different group of the same ethnic Hungarian population (25.9%).
References
1 Muszbek L, Ádány R, Mikkola H. Novel aspects of blood coagulation factor XIII. I. Structure, distribution, activation and function. Crit Rev Lab Sci 1996; 33:357–421.10.3109/10408369609084691Search in Google Scholar
2 Muszbek L, Yee VC, Hevessy Z. Blood coagulation factor XIII: structure and function. Thromb Res 1999; 94:271–305.10.1016/S0049-3848(99)00023-7Search in Google Scholar
3 Muszbek L, Bereczky Z, Katona É. Blood coagulation factor XIII: involvement in fibrinolysis and thrombosis. In: Arnout J, de Gaetano G, Hoylaerts N, Peerlinck K, Van Geet C, Verhaegghe R, editors. Thrombosis. Fundamental and clinical aspects. Leuven: Leuven University Press, 2003:197–224.Search in Google Scholar
4 Mikkola H, Syrjälä M, Rasi V, Vahtera E, Hamalainen E, Peltonen L, Palotie A. Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels. Blood 1994; 84:517–25.10.1182/blood.V84.2.517.517Search in Google Scholar
5 Balogh I, Szöke G, Kárpáti L, Wartiovaara U, Katona É, Komáromi I, et al. Val34Leu polymorphism of plasma factor XIII: biochemistry and epidemiology in familial thrombophilia. Blood 2000; 96:2479–86.10.1182/blood.V96.7.2479.h8002479_2479_2486Search in Google Scholar
6 Ariens RA, Philippou H, Nagaswami C, Weisel JW, Lane DA, Grant PJ. The factor XIII V34L polymorphism accelerates thrombin activation of factor XIII and affects cross-linked fibrin structure. Blood 2000; 96:988–95.10.1182/blood.V96.3.988Search in Google Scholar
7 Wartiovaara U, Mikkola H, Szôke G, Haramura G, Kárpáti L, Balogh I, et al. Effect of Val34Leu polymorphism on the activation of the coagulation factor XIII-A. Thromb Haemost 2000; 84:595–600.10.1055/s-0037-1614073Search in Google Scholar
8 Kohler HP, Stickland MH, Ossei-Gerning N, Carter A, Mikkola H, Grant P. Association of a common polymorphism in the factor XIII gene with myocardial infarction. Thromb Haemost 1998; 79:8–13.10.1055/s-0037-1614250Search in Google Scholar
9 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 1999; 93:906–8.10.1182/blood.V93.3.906Search in Google Scholar
10 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 1999; 93:897–905.10.1182/blood.V93.3.897Search in Google Scholar
11 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 1998; 92:2766–70.10.1182/blood.V92.8.2766Search in Google Scholar
12 Henry M, Morange PE, Canavy I, Alessi MC, Juhan-Vauge I. Rapid detection of factor XIII Val34Leu by allele specific PCR. Thromb Haemost 1999; 81:463.10.1055/s-0037-1614496Search in Google Scholar
13 Wartiovaara U, Perola M, Mikkola H, Tötterma K, Savolainen V, Penttila A, et al. Association of factor XIII Val34Leu with decreased risk of myocardial infarction in Finnish males. Atherosclerosis 1999; 142:295–300.10.1016/S0021-9150(98)00241-XSearch in Google Scholar
14 Muszbek L. Deficiency causing mutations and common polymorphisms in the factor XIII-A gene. Thromb Haemost 2000; 84:524–7.10.1055/s-0037-1614061Search in Google Scholar
15 O’Meara D, Ahmadian A, Odeberg J, Lundeberg J. SNP typing by apyrase-mediated allele-specific primer extension on DNA microarrays. Nucleic Acids Res 2002; 30:e75.10.1093/nar/gnf074Search in Google Scholar PubMed PubMed Central
16 Tjarnlund A, Andersson M, Jood K, Ladenvall P, Jern C. Rapid genotyping of haemostatic gene polymorphisms using the 5′ nuclease assay. Thromb Haemost 2003; 89:936–42.10.1055/s-0037-1613481Search in Google Scholar
© Walter de Gruyter
Articles in the same Issue
- Rapid detection of the factor XIII Val34Leu (163 G→T) polymorphism by real-time PCR using fluorescence resonance energy transfer detection and melting curve analysis
- Changes of matrix metalloproteinases (MMPs) and tissue inhibitors of metalloproteinases (TIMPs) in the serum of patients with autoimmune diseases: association with age and disease activity
- A recombinant cell bioassay for measurement of overall estrogenic activity of serum: preliminary results in women with breast cancer
- N-terminal pro-atrial natriuretic peptide as a biochemical marker of long-term interventional success after radiofrequency catheter ablation of paroxysmal supraventricular tachyarrhythmias
- Preventing in vitro lipoperoxidation in the malondialdehyde-thiobarbituric assay
- Oxidative stress: potential of distinct peroxide determination systems
- Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance
- Guidelines for blood smear preparation and staining procedure for setting up an external quality assessment scheme for blood smear interpretation. Part I: control material
- Measurement of serum and plasma osmolality in healthy young humans – influence of time and storage conditions
- High in-hospital mortality of intensive care patients with nucleated red blood cells in blood
- Frequency of –163 C > A and 63 C > G single nucleotide polymorphism of cytochrome P450 1A2 in two African populations
- Long-term stability of endogenous B-type natriuretic peptide (BNP) and amino terminal proBNP (NT-proBNP) in frozen plasma samples
- Plasma or serum samples: measurements of cardiac troponin T and of other analytes compared
- Antioxidant capacity of the human pericardial fluid: does gender have a role?
- Comparison of serum digoxin concentration monitoring by fluorescence polarization immunoassay on the TDxFLx® and dry chemistry enzyme immunoassay on the Vitros 950
- Multicenter analytical performance evaluation of the Elecsys® proBNP assay
- Analytical evaluation and reference values of serum amyloid-A on the BN ProSpec
- Reference values of soluble interleukin-2 receptor on the IMMULITE
- Analysis of cystatin C, creatinine, albumin, lipids and lipoprotein concentrations in serum and acidified citrate plasma (Stabilyte™) tubes compared
- Analysis of γ-globulins consisting of hepatitis C-associated cryoglobulins in the blood
- Serum total glutathione-S-transferase in stroke, a preliminary report
- Santorini Biologie Prospective Conference 2004 “From Human Genetic Variations to Prediction of Risks and Responses to the Environment”, Santorini, Greece, September 30–October 4, 2004
Articles in the same Issue
- Rapid detection of the factor XIII Val34Leu (163 G→T) polymorphism by real-time PCR using fluorescence resonance energy transfer detection and melting curve analysis
- Changes of matrix metalloproteinases (MMPs) and tissue inhibitors of metalloproteinases (TIMPs) in the serum of patients with autoimmune diseases: association with age and disease activity
- A recombinant cell bioassay for measurement of overall estrogenic activity of serum: preliminary results in women with breast cancer
- N-terminal pro-atrial natriuretic peptide as a biochemical marker of long-term interventional success after radiofrequency catheter ablation of paroxysmal supraventricular tachyarrhythmias
- Preventing in vitro lipoperoxidation in the malondialdehyde-thiobarbituric assay
- Oxidative stress: potential of distinct peroxide determination systems
- Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance
- Guidelines for blood smear preparation and staining procedure for setting up an external quality assessment scheme for blood smear interpretation. Part I: control material
- Measurement of serum and plasma osmolality in healthy young humans – influence of time and storage conditions
- High in-hospital mortality of intensive care patients with nucleated red blood cells in blood
- Frequency of –163 C > A and 63 C > G single nucleotide polymorphism of cytochrome P450 1A2 in two African populations
- Long-term stability of endogenous B-type natriuretic peptide (BNP) and amino terminal proBNP (NT-proBNP) in frozen plasma samples
- Plasma or serum samples: measurements of cardiac troponin T and of other analytes compared
- Antioxidant capacity of the human pericardial fluid: does gender have a role?
- Comparison of serum digoxin concentration monitoring by fluorescence polarization immunoassay on the TDxFLx® and dry chemistry enzyme immunoassay on the Vitros 950
- Multicenter analytical performance evaluation of the Elecsys® proBNP assay
- Analytical evaluation and reference values of serum amyloid-A on the BN ProSpec
- Reference values of soluble interleukin-2 receptor on the IMMULITE
- Analysis of cystatin C, creatinine, albumin, lipids and lipoprotein concentrations in serum and acidified citrate plasma (Stabilyte™) tubes compared
- Analysis of γ-globulins consisting of hepatitis C-associated cryoglobulins in the blood
- Serum total glutathione-S-transferase in stroke, a preliminary report
- Santorini Biologie Prospective Conference 2004 “From Human Genetic Variations to Prediction of Risks and Responses to the Environment”, Santorini, Greece, September 30–October 4, 2004
