[Home ] [Archive]   [ فارسی ]  
:: Main :: About :: Current Issue :: Archive :: Search :: Submit :: Contact ::
Main Menu
Home::
Journal Information::
Articles archive::
For Authors::
For Reviewers::
Registration::
Contact us::
Site Facilities::
Indexing & Abstracting::
::
Search in website

Advanced Search
..
Receive site information
Enter your Email in the following box to receive the site news and information.
..
Creative commons

Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

..

Search published articles


Showing 1 results for Karimipoor

Narghes Roozafzay, Leila Kokabee, Syrous Zeinali, Morteza Karimipoor,
Volume 13, Issue 1 (spring 2013)
Abstract

  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.



Page 1 from 1     

مجله دانشگاه علوم پزشکی اردبیل Journal of Ardabil University of Medical Sciences
Persian site map - English site map - Created in 0.14 seconds with 29 queries by YEKTAWEB 3925