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 * ![](./files/0allsites/images/pubmed20.png) |
, mortezakarimi@yahoo.com |
|
Abstract: (8867 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]
(1728 Downloads)
|
Type of Study: article |
Subject:
Special Received: 2012/11/12 | Accepted: 2013/02/28 | Published: 2013/03/21
|
|
|
|