MOLECULAR CHARACTERIZATION OF THE FACTOR IX GENE IN 28 IRANIAN HEMOPHILIA B PATIENTS

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KARIMIPOUR MORTEZA; ZEYNALI SIROUS; TUDDENHAM E.G.; NAFISI N.; LAK M.; GREEN P.

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Journal Paper

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Journal: Iranian Journal of Blood and Cancer Year:2009 | Volume:1 | Issue:2 Page(s): 43-47

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Title

MOLECULAR CHARACTERIZATION OF THE FACTOR IX GENE IN 28 IRANIAN HEMOPHILIA B PATIENTS

Author(s)

Keywords

HEMOPHILIA B

FACTOR IX GENE

MUTATION

IRAN

Abstract

Background: Heterogeneous MUTATIONs in the human coagulation FACTOR IX GENE lead to an X-linked recessive bleeding disorder known as HEMOPHILIA B. The disease is distributed worldwide with no ethnic or geographical priority.Materials and Methods: The aim of this study was to characterize the FACTOR IX GENE MUTATIONs in 28 unrelated IRANian HEMOPHILIA B patients. Polymerase chain reaction (PCR) and direct sequencing was performed for all functionally important regions of the gene. Haplotype analysis was performed using three markers. Results: We identified 24 point MUTATIONs and four small deletions (one novel MUTATION). Overall, 20 different MUTATIONs were found and patients with common MUTATIONs had identical haplotype.Conclusion: These data confirm high molecular heterogeneity of the MUTATIONs causing HEMOPHILIA B and will enable carrier testing and prenatal diagnosis for family members.

Cites

GENETIC VARIATION OF RS438601 MARKER IN THE IRANIAN POPULATION: AN INFORMATIVE MARKER FOR MOLECULAR DIAGNOSIS OF HEMOPHILIA B

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APA: Copy

KARIMIPOUR, MORTEZA, ZEYNALI, SIROUS, TUDDENHAM, E.G., NAFISI, N., LAK, M., & GREEN, P.. (2009). MOLECULAR CHARACTERIZATION OF THE FACTOR IX GENE IN 28 IRANIAN HEMOPHILIA B PATIENTS. IRANIAN JOURNAL OF BLOOD AND CANCER (IJBC), 1(2), 43-47. SID. https://sid.ir/paper/313125/en

Vancouver: Copy

KARIMIPOUR MORTEZA, ZEYNALI SIROUS, TUDDENHAM E.G., NAFISI N., LAK M., GREEN P.. MOLECULAR CHARACTERIZATION OF THE FACTOR IX GENE IN 28 IRANIAN HEMOPHILIA B PATIENTS. IRANIAN JOURNAL OF BLOOD AND CANCER (IJBC)[Internet]. 2009;1(2):43-47. Available from: https://sid.ir/paper/313125/en

IEEE: Copy

MORTEZA KARIMIPOUR, SIROUS ZEYNALI, E.G. TUDDENHAM, N. NAFISI, M. LAK, and P. GREEN, “MOLECULAR CHARACTERIZATION OF THE FACTOR IX GENE IN 28 IRANIAN HEMOPHILIA B PATIENTS,” IRANIAN JOURNAL OF BLOOD AND CANCER (IJBC), vol. 1, no. 2, pp. 43–47, 2009, [Online]. Available: https://sid.ir/paper/313125/en

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