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Information Journal Paper

Title

FREQUENCY OF FACTOR V LEIDEN, PROTHROMBIN G20210 AND C667T MUTATIONS IN METHYLENETETRAHYDROFOLATE REDUCTASE IN PATIENTS WITH BETA AND INTERMEDIATE THALASSEMIA COMPARED WITH NORMAL SUBJECTS IN NORTHERN IRAN

Pages

  1-9

Keywords

METHYLENETETRAHYDROFOLATE REDUCTASE (MTFHR) 

Abstract

 Background and purpose: Mutation in FACTOR V LEIDEN (R506Q), mutation of G20210A in prothrombin and mutation of C667T in methylenetetrahydrofolate reductase (MTFHR) are part of genetic variant that increase the risk of THROMBOSIS. The purpose of this study was to define the frequencies of three risk factors among THALASSAEMIA major and THALASSAEMIA intermedia compared with the normal subjects.Materials and methods: In this study in Sari city, North of Iran, 164 participants including 59 patients with THALASSAEMIA intermedia, 99 patients with THALASSAEMIA major and 105 normal individuals (as control) were studied. After DNA extraction from peripheral blood using the standard method, two different methods, ARMS-PCR and PCR-RFLP were used to determine the mutation in each of the three genes. Finally, frequency of the alleles was statistically compared.Results: Frequency of the mutation of G20210A in normal control was 0.48 percent and it was not seen in patients with THALASSAEMIA major. Frequency of mutant allele C667T (allele T) in gene MTHFR were 24 percent in normal subjects, 26 percent in patients with intermedia and 18.4 percent in patients with majors THALASSAEMIA. Frequency of FV leiden were 3.3 percent in normal control, 1.06% in THALASSAEMIA intermedia and 0.48 percent in THALASSAEMIA major.Conclusion: The results of this study showed that despite higher thrombotic risk in patients with THALASSAEMIA (especially in THALASSAEMIA intermedia), there was no significant difference among the THALASSAEMIA major, intermedia and normal subjects on three genetic risk factors studied in this research.

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    APA: Copy

    HASHEMI SOTEH, MOHAMAD BAGHER, ALIASGHARIAN, AILY, JALALI, HOSSEIN, NEJATI FARD, SEYEDEH NARGES, KOSARIAN, MEHRNOUSH, & KARAMI, HOSSEIN. (2011). FREQUENCY OF FACTOR V LEIDEN, PROTHROMBIN G20210 AND C667T MUTATIONS IN METHYLENETETRAHYDROFOLATE REDUCTASE IN PATIENTS WITH BETA AND INTERMEDIATE THALASSEMIA COMPARED WITH NORMAL SUBJECTS IN NORTHERN IRAN. JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES, 24(81), 1-9. SID. https://sid.ir/paper/568384/en

    Vancouver: Copy

    HASHEMI SOTEH MOHAMAD BAGHER, ALIASGHARIAN AILY, JALALI HOSSEIN, NEJATI FARD SEYEDEH NARGES, KOSARIAN MEHRNOUSH, KARAMI HOSSEIN. FREQUENCY OF FACTOR V LEIDEN, PROTHROMBIN G20210 AND C667T MUTATIONS IN METHYLENETETRAHYDROFOLATE REDUCTASE IN PATIENTS WITH BETA AND INTERMEDIATE THALASSEMIA COMPARED WITH NORMAL SUBJECTS IN NORTHERN IRAN. JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2011;24(81):1-9. Available from: https://sid.ir/paper/568384/en

    IEEE: Copy

    MOHAMAD BAGHER HASHEMI SOTEH, AILY ALIASGHARIAN, HOSSEIN JALALI, SEYEDEH NARGES NEJATI FARD, MEHRNOUSH KOSARIAN, and HOSSEIN KARAMI, “FREQUENCY OF FACTOR V LEIDEN, PROTHROMBIN G20210 AND C667T MUTATIONS IN METHYLENETETRAHYDROFOLATE REDUCTASE IN PATIENTS WITH BETA AND INTERMEDIATE THALASSEMIA COMPARED WITH NORMAL SUBJECTS IN NORTHERN IRAN,” JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES, vol. 24, no. 81, pp. 1–9, 2011, [Online]. Available: https://sid.ir/paper/568384/en

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    مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources
    مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources
    مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources
    مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources
    مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources
    مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources
    مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources
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