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جلد 1 شماره 2 صفحات 47-43 برگشت به فهرست نسخه ها
Molecular Characterization of the Factor IX Gene in 28 Iranian Hemophilia B Patients
چکیده:   (12971 مشاهده)

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) and direct sequencing was performed for all functionally important regions of the gene. Haplotype analysis was performed using three markers.

Results: We identified 24 point mutations and four small deletions (one novel mutation). Overall, 20 different mutations were found and patients with common mutations had identical haplotype.

Conclusion: These data confirm high molecular heterogeneity of the mutations causing hemophilia B and will enable carrier testing and prenatal diagnosis for family members.

متن کامل [PDF 179 kb]   (3985 دریافت)    
: پژوهشي | موضوع مقاله: Pediatric Hematology & Oncology
دریافت: 1389/11/6 | انتشار: 1388/9/24
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Karimipour M, Zeinali S, Graham Tuddenham E, Nafissi N, Lak M, Green P. Molecular Characterization of the Factor IX Gene in 28 Iranian Hemophilia B Patients. IJBC. 2009; 1 (2) :43-47
URL: http://ijbc.ir/article-1-17-fa.html

Molecular Characterization of the Factor IX Gene in 28 Iranian Hemophilia B Patients. مجله خون و سرطان ايران. 1388; 1 (2) :47-43

URL: http://ijbc.ir/article-1-17-fa.html



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Creative Commons License این مقاله تحت شرایط Creative Commons Attribution-NonCommercial 4.0 International License قابل بازنشر است.
دوره 1، شماره 2 - ( 9-1388 ) برگشت به فهرست نسخه ها
مجله ی خون و سرطان ایران Iranian Journal of Blood and Cancer
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