Volume 12, Issue 1 (Spring 2015)                   Sci J Iran Blood Transfus Organ 2015, 12(1): 32-38 | Back to browse issues page

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Shahbazi S, Bahari Tashe Kabood H. Evaluation of vWF gene R2185Q allelic variant located on exon 37 in Iranian population. Sci J Iran Blood Transfus Organ 2015; 12 (1) :32-38
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Sci J Iran Blood Transfus Organ 2015; 12(1): 32-38
 
Original  Article
 
 

Evaluation of vWF gene R2185Q allelic variant
located on exon 37 in Iranian population
 
Shahbazi Sh.1, Bahari Tashe Kabood H.2
 
 
 
 
1Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran
2Science and Research Branch, Islamic Azad University, Tehran, Iran
 
 
 
 
Abstract
Background and Objectives
Von Willebrand Disease is an autosomal inherited coagulation disorder that is caused by quantitative or functional defects in vWF. ‎In 2007, R2185Q‎ was described as a vWD type 1 mutation in the Canadian population. Recent studies conducted on healthy people showed that ‎the R2185Q variant can be present in normal individuals. The purpose of this study was to evaluate the frequency of vWF gene R2185Q variant‎.
 
Materials and Methods
In this descriptive study, 297 Iranian healthy individuals were evaluated. The subjects were interviewed for bleeding history and other relative symptoms. DNA was extracted by salting out methods from 5 ml of blood samples. Using PCR-RFLP, the samples were genotyped and the results were confirmed by sequencing.
 
Results
The study was performed on healthy individuals from both sex and different Iranian ethnic groups. Two individuals without any bleeding history were found to carry this allele in a heterozygote manner. The allele frequency was calculated 0.33% which was below 1% and thereby could not be considered as a polymorphism.
 
Conclusions
vWF gene contains various mutation and polymorphisms which are population specific. To understand the Iranian pattern, more studies should be done to reveal this characteristic. 
 
Key words:  Exons, von Willebrand Diseases, Allele Frequency
 
 
 
 
 
 
 
Received:  30 Aug 2014
Accepted: 12 Nov 2014
 
 


 

Correspondence: Shahbazi Sh., PhD of Genetics. Assistant Professor of Faculty of Medical Sciences, Tarbiat Modares University.
P.O.Box: 14115-331, Tehran, Iran. Tel: (+9821) 82884556; Fax: (+9821) 82884555
E-mail: sh.shahbazi@modares.ac.ir
Type of Study: Research | Subject: Genetis
Published: 2015/04/7

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