Beta Globin Frameworks in Thalassemia Major Patients from North Iran

AUTHORS

Mandana Azizi 1 , Ali Banihashemi 1 , Haleh Akhavan-Niaki 2 , *

1 Genetic Laboratory, Amirkola Children's Hospital, Babol University of Medical Sciences, Babol, Iran

2 1. Cellular and Molecular Biology Research Center, Babol University of Medical Sciences, Babol & Genetic Laboratory, Amirkola Children's Hospital, Babol University of Medical Sciences, Babol, Iran

How to Cite: Azizi M, Banihashemi A, Akhavan-Niaki H. Beta Globin Frameworks in Thalassemia Major Patients from North Iran, Iran J Pediatr. 2015 ; 22(3):297-302.

ARTICLE INFORMATION

Iranian Journal of Pediatrics: 22 (3); 297-302
Published Online: September 30, 2012
Article Type: Research Article
Received: May 12, 2011
Accepted: March 10, 2012

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Abstract

Objective: Four combinations of five neutral sequence changes at rs713040, rs10768683, rs7480526, rs7946748, and rs1609812 occurring in the human beta globin gene defined as frameworks have been reported in beta globin gene. Here we report for the frequency of these frameworks in thalassemia major patients of North Iran.
Methods: Beta globin gene frameworks of 46 thalassemia major patients of North Iran were determined using Denaturing Gradient Gel Electrophoresis.
Findings: All these frameworks called framework 1, 2, 3, 3a were present at the frequency of 23.9%, 45.7%, 6.5% and 23.9% respectively.
Conclusion: These frameworks may be used for tracking mutant alleles in prenatal diagnosis programs.

 

Keywords

Beta–Globin Thalassemia Polymorphism Denaturing Gradient Gel Electrophoresis

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