Author/Authors :
Zahedmehr, A Hemophilia Centre, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, , Delmaghani, S Hemophilia Centre, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, , Sharifian, R Hemophilia Centre, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, , Lak, M Hemophilia Centre, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, , Zeinali, S Hemophilia Centre, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran,
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
