The Frequencies of three Factor IX-Linked Restriction Fragment Length Polymorphisms in Iranian Patients with Hemophilia B

Background: Hemophilia B is an X-linked recessive coagulation disorder caused by factor IX deficiency. Analysis of factor IX gene polymorphisms is considered the best approach for prenatal diagnosis and carrier detection of hemophilia B where the identification of gene mutation is not easily possible. Objective: To study the frequency of three factor IX-linked restriction fragment length polymorphisms (RFLPs) in Iranian women. Methods: 50 normal women and 50 mothers of patients with hemophilia B entered this study. RFLP/Polymerase chain reaction (PCR) techniques for detection of BamHI, HhaI and MnlI sites were used. Results: The frequencies of DNA polymorphisms were 0.50/0.50 for HhaI; 0.24/0.76 for MnlI; and 0.02/0.98 for BamHI sites. Among 9 different haplotypes, 2 major haplotypes were predominated. Conclusion: HhaI and MnlI RFLPs can be used for carrier detection and prenatal diagnosis of hemophilia B. Iran J Med Sci 2004; 29(1):26-30.