The Frequencies of three Factor IX-Linked Restriction Fragment Length Polymorphisms in Iranian Patients with Hemophilia B
نویسندگان
چکیده مقاله:
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.
منابع مشابه
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 pol...
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متن کاملMolecular Characterization of the Factor IX Gene in 28 Iranian Hemophilia B Patients
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)...
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عنوان ژورنال
دوره 29 شماره 1
صفحات 26- 30
تاریخ انتشار 2015-10-04
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