Author/Authors :
Karimipour, Morteza Pasteur Iinstitute of Iran - Biotechnology research Centre - Molecular Medicine Group, تهران, ايران , Zeinali, Sirous Pasteur Iinstitute of Iran - Biotechnology research Centre - Molecular Medicine Group, تهران, ايران , Nafissi, Nafiseh Pasteur Iinstitute of Iran - Biotechnology research Centre - Molecular Medicine Group, تهران, ايران , Tuddenham, Edward Graham Royal Free Hospital, Pond Street - Hemophilia Center and Hemostasis Unit, London , Lak, Manijeh Imam Khomeini Hospital - Hemophilia Center, ايران , Green, Peter Guys Hospital - GKT School of Medicine, London
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.
Keywords :
hemophilia B , factor IX gene , mutation , iran
