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:: Volume 13, Issue 1 (spring 2013) ::
J Ardabil Univ Med Sci 2013, 13(1): 93-101 Back to browse issues page
Analysis of Intron 1 Inversion at F8 Gene in Severe Hemophilia A Patients by Inverse Shifting-PCR Referred from Isfahan Seyedolshohada Hospital
Narghes Roozafzay, Leila Kokabee, Syrous Zeinali, Morteza Karimipoor
Abstract:   (5136 Views)

  Background & Objectives: Hemophilia A is an X-linked recessive bleeding disorder , which is caused by several different abnormalities in Factor 8 gene . Intron 22 inversion is the main causative mutation in 45-50% of severe hemophilia A patients. Moreover intron 1 inversion is responsible for >5% of severe hemophilia A cases . The goal of this study was to precisely analyse intron 1 inversion of Factor 8 gene in severe Hemophilia A patients who were negative for intron 22 inversion by Inverse Shifting-PCR (IS-PCR) method.

  Methods: In this experimental study, severe hemophilia A patients with less than 1% of normal FVIII activity level referred from Isfahan Seyedolshohada hospital were analyzed. After obtaining the consent from patients, genomic DNA from peripheral blood leukocytes was extracted. Then, Inverse-Shifting PCR method was exploited for detection of inversion of intron 1 of Factor 8 gene in patients who were negative for inversion intron 22 .

  Results : In 18 out of 32 patients who were negative for inversion intron 22, 2 (6.2%) had intron 1 inversion .

  Conclusion : The allele frequency of inversion of intron 1 at Factor 8 gene is in agreement with related studies. IS-PCR is a rapid, robust and cost effective method that can improve the molecular detection of inversion and is useful for analysis of hemophilia A patients, carrier testing and prenatal diagnosis.

Keywords: Hemophilia A; Intron 1; Inverse Shifting-PCR; Inversion
Full-Text [PDF 217 kb]   (938 Downloads)    
Type of Study: article | Subject: Special
Received: 2012/11/12 | Accepted: 2013/02/28 | Published: 2013/03/21
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Roozafzay N, Kokabee L, Zeinali S, Karimipoor M. Analysis of Intron 1 Inversion at F8 Gene in Severe Hemophilia A Patients by Inverse Shifting-PCR Referred from Isfahan Seyedolshohada Hospital. J Ardabil Univ Med Sci. 2013; 13 (1) :93-101
URL: http://jarums.arums.ac.ir/article-1-131-en.html


Volume 13, Issue 1 (spring 2013) Back to browse issues page
مجله دانشگاه علوم پزشکی اردبیل Journal of Ardabil University of Medical Sciences
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