Document Type : Original Article(s)
Authors
1 Department of Biotechnology, Pas-teur Institute of Iran, Tehran, Iran
2 Hemophilia Centre, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran
Abstract
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.
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