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:: Volume 1, Issue 2 (Winter 2009) ::
IJBC 2009, 1(2): 43-47 Back to browse issues page
Molecular Characterization of the Factor IX Gene in 28 Iranian Hemophilia B Patients
Morteza Karimipour *, Sirous Zeinali, Edward Graham Tuddenham, Nafiseh Nafissi, Manijeh Lak, Peter Green
Abstract:   (12836 Views)

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.

Keywords: hemophilia B, factor IX gene, mutation, iran
Full-Text [PDF 179 kb]   (3951 Downloads)    
: Research | Subject: Pediatric Hematology & Oncology
Received: 2011/01/26 | Published: 2009/12/15
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Karimipour M, Zeinali S, Graham Tuddenham E, Nafissi N, Lak M, Green P. Molecular Characterization of the Factor IX Gene in 28 Iranian Hemophilia B Patients. IJBC. 2009; 1 (2) :43-47
URL: http://ijbc.ir/article-1-17-en.html


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Volume 1, Issue 2 (Winter 2009) Back to browse issues page
مجله ی خون و سرطان ایران Iranian Journal of Blood and Cancer
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