Molecular Characterization of the Factor IX Gene in 28 Iranian Hemophilia B Patients
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Morteza Karimipour *, Sirous Zeinali, Edward Graham Tuddenham, Nafiseh Nafissi, Manijeh Lak, Peter Green |
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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. |
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Keywords: hemophilia B, factor IX gene, mutation, iran |
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: Research |
Subject:
Pediatric Hematology & Oncology Received: 2011/01/26 | Published: 2009/12/15
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