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Date Published:
03/11/2020
Online Published:
03/11/2020
Abstract Views: 606
Views PDF: 173
Views PDF: 173
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Section
Research Article
How to Cite
Bach, N. D., Vu, H. A., Dung, P. V., & Nam, N. H. (2020). KHẢO SÁT YẾU TỐ V LEIDEN TRÊN BỆNH NHÂN HUYẾT KHỐI TĨNH MẠCH. The Vietnam Journal of Cardiovascular and Thoracic Surgery, 8, 21-26. https://doi.org/10.47972/vjcts.v8i.261
KHẢO SÁT YẾU TỐ V LEIDEN TRÊN BỆNH NHÂN HUYẾT KHỐI TĨNH MẠCH
Main Article Content
Abstract
Introduction: Factor V Leiden is the most common inherited cause of thormbosis in Cacausian population, but predicted rare in color population. In Vietnamesepeople, however, there is no report of factor V Leiden in the medical literature.
Aim: Detecting the factor V Leiden in thrombosis patients by using Sanger sequencing method. Patients and methods: The exon 10 of F5 gene, which contents G1691A mutation –factor V Leiden - was cloned by polymerase chain reaction (PCR), and sequenced by ABI 3130 Genetic Analyzer system. First, a DNA sequencing protocol was established based on known positive factor V Leiden samples. Then, this technique was used to screen for factor V Leiden on 70 thrombosis patients and 180 people in control group.
Results: The established DNA sequencing method accurately detected factor V Leiden frompositive samples with heterozygous and homozygous alleles. There was no factor V Leiden detected in the 250 individuals in this study.
Conclution: In Vietnamese patients, factor V Leiden is not the cause of venous thrombosis.
Article Details
Keywords
Venous thrombosis, factor V Leiden, DNA sequencing, Vietnamese patients
References
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2. Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH: Mutation in blood coagulation factor v associated with resistance to activated protein c. Nature. 1994;369:64-67.
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4. Dahlback B. Advances in understanding pathogenic mechanisms of thrombophilic disorders. Blood. 2008; 112: 19-27
5. Đặng Vạn Phước, Phạm Gia Khải và cs. Huyết khối tĩnh mạch sâu: Chẩn đoán bằng siêu âm Duplex trên bệnh nhân nội khoa nhập viện. Tạp chí Tim mạch học Việt Nam. 2010;56:24-36.
6. Gandrille S, et al. Protein S deficiency: a datatbase of mutations – summary of the first update. Thromb.Haemost. 2000; 84: 918
7. Heeb MJ. Role of the PROS1 gene in thrombosis: lessons and controversies. Expert
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8. Huỳnh Văn Ân, Ngô Văn Thành. Huyết khối tĩnh mạch sâu ở bệnh nhân nội khoa tại khoa Săn Sóc Đặc Biệt (ICU) bệnh viện Nhân dân Gia định. Y Hoc TP. Hồ Chí Minh. 2009; 13:127 – 134
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10. Lê Thượng Vũ, Võ Hồng Lĩnh, Đặng Vạn Phước. Thuyên tắc phổi: Tiến bộ chẩn đoán khiến bệnh không còn là quá hiếm? Y Học TP. Hồ Chí Minh. 2004;8:124-131
11. Miyata T et al. Genetic risk factors for deep vein thrombosis among Japanese: importance of protein S K196E. Int J Hematol. 2006; 83:217-223
12. Nelsestuen GL, et al. the mode of action of vitamin K. Identification of gamma-carboxyglutamic acid as a component of prothrombin. J Biol Chem. 1974; 249: 6347-6350
13. Pantep Angchaisuksiri. Venous thromboembolism in Asia – an unrecognised and under-treated problem?. Thrombosis and Heamostasis. 2011; 106: 585-590
14. Previtali E, Bucciarelli P, Passamonti SM, Martinelli I: Risk factors for venous and arterial thrombosis. Blood Transfus.2011;9:120-138
15. Rambaldi MP, et al. Inherited and acquired thrombophilias. Reproductive science. 2014;
167-182
16. Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet. 1995;346:1133-1134
17. Reich LM, et al. Role of the geneticist in testing and counseling for inherited thrombophilia. Genetics in Medicine. 2003 , 133:143
18. Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH: High risk of thrombosis in patients homozygous for factor v leiden (activated protein c resistance). Blood. 1995;85:1504-1508
19. Rosendaal FR. Venous thrombosis: a multicausal disease. Lancet. 1999; 353: 1167-1173
20. Simioni P, Prandoni P, Lensing AW, Scudeller A, Sardella C, Prins MH, Villalta S, Dazzi F, Girolami A: The risk of recurrent venous thromboembolism in patients with an Arg506>Gln mutation in the gene for factor v (factor v leiden). N Engl J Med. 1997;336:399-403
21. Simone B, et al. Risk of venous thromboembolism associated with single and combined effects of Factor V Leiden, Prothrombin 20210A and Methylenetethradrofolate reductase C677T: a metaanalysis involving over 11.000 cases and 21.000 controls. Eur J Epidemiol. 2013; 28:621-647
22. Sveinsdottir SV, Saemundsson Y, Isma N, Gottsater A, Svensson PJ: Evaluation of recurrent venous thromboembolism in patients with factor v leiden mutation in heterozygous form. Thromb Res. 2012;130:467-471
23. Svensson PJ, Zoller B, Mattiasson I, Dahlback B: The factor vr506q mutation causing apc resistance is highly prevalent amongst unselected outpatients with clinically suspected deep venous thrombosis. J Intern Med. 1997;241:379-385
24. Thiruchelvam Ayadurai, et al, Thrombophilia investigation in Malaysian women with recurrent pregnancy loss. J Obstet Gynaecol Res. 2009;35:1061-8
25. Voorberg J, Roelse J, Koopman R, Buller H, Berends F, ten Cate JW, Mertens K, van Mourik JA: Association of idiopathic venous thromboembolism with single point-mutation at arg506 of factor v. Lancet. 1994;343:1535-1536
26. Zoller B, Svensson PJ, He X, Dahlback B: Identification of the same factor v gene mutation in 47 out of 50 thrombosis-prone families with inherited resistance to activated protein c. J Clin Invest. 1994;94:2521-2524
27. Zsuzsanna B, et al. Protein C and protein S deficiences: similarities and defferences between two brother playing in the same game. Clin Chem Lab Med. 2010; 48:S53-S66
2. Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH: Mutation in blood coagulation factor v associated with resistance to activated protein c. Nature. 1994;369:64-67.
3. Chang MH, et al. Prevalence in the United States of selected candidate gene varians: Third National Health and Nutrition Examination Servey, 1991-1994. Am J Epidemiol. 2009; 169:54-66
4. Dahlback B. Advances in understanding pathogenic mechanisms of thrombophilic disorders. Blood. 2008; 112: 19-27
5. Đặng Vạn Phước, Phạm Gia Khải và cs. Huyết khối tĩnh mạch sâu: Chẩn đoán bằng siêu âm Duplex trên bệnh nhân nội khoa nhập viện. Tạp chí Tim mạch học Việt Nam. 2010;56:24-36.
6. Gandrille S, et al. Protein S deficiency: a datatbase of mutations – summary of the first update. Thromb.Haemost. 2000; 84: 918
7. Heeb MJ. Role of the PROS1 gene in thrombosis: lessons and controversies. Expert
Reviews. 2008; 1:9-12
8. Huỳnh Văn Ân, Ngô Văn Thành. Huyết khối tĩnh mạch sâu ở bệnh nhân nội khoa tại khoa Săn Sóc Đặc Biệt (ICU) bệnh viện Nhân dân Gia định. Y Hoc TP. Hồ Chí Minh. 2009; 13:127 – 134
9. Lê Thị Thu Hương, Nguyễn Ngọc Thuỵ. Báo cáo loạt ca lâm sàng thuyên tắc phổi do huyết khối được chẩn đoán tại Bệnh viện Nhân dân Gia Định. Y Học TP. Hồ Chí Minh. 2009;13:103 – 111
10. Lê Thượng Vũ, Võ Hồng Lĩnh, Đặng Vạn Phước. Thuyên tắc phổi: Tiến bộ chẩn đoán khiến bệnh không còn là quá hiếm? Y Học TP. Hồ Chí Minh. 2004;8:124-131
11. Miyata T et al. Genetic risk factors for deep vein thrombosis among Japanese: importance of protein S K196E. Int J Hematol. 2006; 83:217-223
12. Nelsestuen GL, et al. the mode of action of vitamin K. Identification of gamma-carboxyglutamic acid as a component of prothrombin. J Biol Chem. 1974; 249: 6347-6350
13. Pantep Angchaisuksiri. Venous thromboembolism in Asia – an unrecognised and under-treated problem?. Thrombosis and Heamostasis. 2011; 106: 585-590
14. Previtali E, Bucciarelli P, Passamonti SM, Martinelli I: Risk factors for venous and arterial thrombosis. Blood Transfus.2011;9:120-138
15. Rambaldi MP, et al. Inherited and acquired thrombophilias. Reproductive science. 2014;
167-182
16. Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet. 1995;346:1133-1134
17. Reich LM, et al. Role of the geneticist in testing and counseling for inherited thrombophilia. Genetics in Medicine. 2003 , 133:143
18. Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH: High risk of thrombosis in patients homozygous for factor v leiden (activated protein c resistance). Blood. 1995;85:1504-1508
19. Rosendaal FR. Venous thrombosis: a multicausal disease. Lancet. 1999; 353: 1167-1173
20. Simioni P, Prandoni P, Lensing AW, Scudeller A, Sardella C, Prins MH, Villalta S, Dazzi F, Girolami A: The risk of recurrent venous thromboembolism in patients with an Arg506>Gln mutation in the gene for factor v (factor v leiden). N Engl J Med. 1997;336:399-403
21. Simone B, et al. Risk of venous thromboembolism associated with single and combined effects of Factor V Leiden, Prothrombin 20210A and Methylenetethradrofolate reductase C677T: a metaanalysis involving over 11.000 cases and 21.000 controls. Eur J Epidemiol. 2013; 28:621-647
22. Sveinsdottir SV, Saemundsson Y, Isma N, Gottsater A, Svensson PJ: Evaluation of recurrent venous thromboembolism in patients with factor v leiden mutation in heterozygous form. Thromb Res. 2012;130:467-471
23. Svensson PJ, Zoller B, Mattiasson I, Dahlback B: The factor vr506q mutation causing apc resistance is highly prevalent amongst unselected outpatients with clinically suspected deep venous thrombosis. J Intern Med. 1997;241:379-385
24. Thiruchelvam Ayadurai, et al, Thrombophilia investigation in Malaysian women with recurrent pregnancy loss. J Obstet Gynaecol Res. 2009;35:1061-8
25. Voorberg J, Roelse J, Koopman R, Buller H, Berends F, ten Cate JW, Mertens K, van Mourik JA: Association of idiopathic venous thromboembolism with single point-mutation at arg506 of factor v. Lancet. 1994;343:1535-1536
26. Zoller B, Svensson PJ, He X, Dahlback B: Identification of the same factor v gene mutation in 47 out of 50 thrombosis-prone families with inherited resistance to activated protein c. J Clin Invest. 1994;94:2521-2524
27. Zsuzsanna B, et al. Protein C and protein S deficiences: similarities and defferences between two brother playing in the same game. Clin Chem Lab Med. 2010; 48:S53-S66
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