INVESTIGATION OF FACTOR V LEIDEN MUTATION (R506Q) IN THROMBOPHILIC PATIENTS REFERRING TO TEHRAN BLOOD TRANSFUSION ORGANIZATION BY USING PCR-RFLP METHOD

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ALINEZHAD A.; KAFIABADI A.S.; SAMIEI SH.; POURFATH ELAH A.A.

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Journal: Daneshvar Medicine: Basic and Clinical Research Journal Year:2006 | Volume:13 | Issue:63 Page(s): 67-74

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Title

INVESTIGATION OF FACTOR V LEIDEN MUTATION (R506Q) IN THROMBOPHILIC PATIENTS REFERRING TO TEHRAN BLOOD TRANSFUSION ORGANIZATION BY USING PCR-RFLP METHOD

Author(s)

ALINEZHAD A. | KAFIABADI A.S. | SAMIEI SH. | POURFATH ELAH A.A. | Issue Writer Certificate

Keywords

THROMBOEMBOLICQ3

PCR-RFLPQ2

FACTOR V LEIDENQ3

APC-RQ3

Abstract

Background: Thrombosis is the most common reason of death in the United States causing more than two million people die from arterial or venous thrombosis every year. Thrombotic episodes may be due to congenital abnormality or to acquired alteration. The term thrombophilia is used to describe any disorder associated with an increased tendendency to venous thromboembolism (VTE), either inherited or acquired. Clinical risk factors that predispose individuals to venous thrombosis include: 1- Venous stasis 2- Vessel wall damage 3- FACTOR V LEIDEN and activated protein C resistance 4- Deficiency of circulating protease inhibitors 5- Elevated prothrombin levels 6- Antiphospholipid antibodies 7- Hyperhomocysteinemia 8- Decreased fibrinolytic activity 9- Malignancy.In venous thrombophilic processes multiple acquired and inherited factors are involved. Among genetic factors mutation in FACTOR V LEIDEN, prothrombin G20210A and C677T MTHFR plus HR2 haplotype have been described. Anti-phospholipid antibodies are the most prominent acquired form. Regarding the importance of FACTOR V LEIDEN mutation, we decided to investigate the frequency of this mutation in thrombophilic patients who had referred to Tehran Blood Transfusion Organization.Thrombin activates protein c. which inhibits coagulation by inactivating factor va and factor Villa. A novel mechanism for familial thrombophilia was recognized in 1993 with the description of a syndrome characterized by inherited resistance to activated protein c, (APCR). Multiple genetical defects in F.V are reported, and it is thought that Leiden mutation (R506Q) leads to APC resistance, and genetical susceptibility to hyperquagulablity conditions. Material and Methods: In this research 300 Thrombophilic patients were selected who underwent APC-R screening test. As a result, APC resistance was observed in 23 patients. Next, DNA from positive samples was extracted through chelex method. PCR-RFLP with specific primers was chosen as a confirmatory test for FACTOR V LEIDEN mutation. Short after amplification, PCR products were digested by Mull restriction enzyme. Hence, a different pattern of homozygote, heterozygote and wild type appeared.Results: From 300 patients participating in this study, 131 were male and169 were female (with the age mean of 42 (SD=±8.67). Leiden mutation was observed in 10 patients with the prevalence of 3.3%.Conclusion: In previous studies, the frequency of F.V Leiden in thrombophilic patients was reported 40-65%. Thus, it is likely that the mutation of F.V Leiden as a predisposing factor for thrombosis in our patients is not very important, and there may be other significant genetic mutations which must be investigated in further studies.

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APA: Copy

ALINEZHAD, A., KAFIABADI, A.S., SAMIEI, SH., & POURFATH ELAH, A.A.. (2006). INVESTIGATION OF FACTOR V LEIDEN MUTATION (R506Q) IN THROMBOPHILIC PATIENTS REFERRING TO TEHRAN BLOOD TRANSFUSION ORGANIZATION BY USING PCR-RFLP METHOD. DANESHVAR MEDICINE, 13(63), 67-74. SID. https://sid.ir/paper/30893/en

Vancouver: Copy

ALINEZHAD A., KAFIABADI A.S., SAMIEI SH., POURFATH ELAH A.A.. INVESTIGATION OF FACTOR V LEIDEN MUTATION (R506Q) IN THROMBOPHILIC PATIENTS REFERRING TO TEHRAN BLOOD TRANSFUSION ORGANIZATION BY USING PCR-RFLP METHOD. DANESHVAR MEDICINE[Internet]. 2006;13(63):67-74. Available from: https://sid.ir/paper/30893/en

IEEE: Copy

A. ALINEZHAD, A.S. KAFIABADI, SH. SAMIEI, and A.A. POURFATH ELAH, “INVESTIGATION OF FACTOR V LEIDEN MUTATION (R506Q) IN THROMBOPHILIC PATIENTS REFERRING TO TEHRAN BLOOD TRANSFUSION ORGANIZATION BY USING PCR-RFLP METHOD,” DANESHVAR MEDICINE, vol. 13, no. 63, pp. 67–74, 2006, [Online]. Available: https://sid.ir/paper/30893/en

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