Paper Information

Journal:   IRANIAN JOURNAL OF MEDICAL SCIENCES (IJMS)   March 2004 , Volume 29 , Number 1; Page(s) 26 To 30.
 
Paper: 

THE FREQUENCIES OF THREE FACTOR IX-LINKED RESTRICTION FRAGMENT LENGTH POLYMORPHISMS IN IRANIAN PATIENTS WITH HEMOPHILIA B

 
 
Author(s):  ZAHED MEHR A., DELMAGHANI S., SHARIFIAN R., LAK M., ZEYNALI S.*
 
* 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.
 
Keyword(s): HEMOPHILIA B • RESTRICTION FRAGMENT LENGTH POLYMORPHISMS • FACTOR IX
 
References: 
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