Beta Globin Frameworks in Thalassemia Major Patients from North Iran

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 p...

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Autores principales: Akhavan-Niaki, Haleh, Banihashemi, Ali, Azizi, Mandana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Tehran University of Medical Sciences 2012
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3564082/
https://www.ncbi.nlm.nih.gov/pubmed/23399541
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author Akhavan-Niaki, Haleh
Banihashemi, Ali
Azizi, Mandana
author_facet Akhavan-Niaki, Haleh
Banihashemi, Ali
Azizi, Mandana
author_sort Akhavan-Niaki, Haleh
collection PubMed
description 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.
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spelling pubmed-35640822013-02-10 Beta Globin Frameworks in Thalassemia Major Patients from North Iran Akhavan-Niaki, Haleh Banihashemi, Ali Azizi, Mandana Iran J Pediatr Original Article 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. Tehran University of Medical Sciences 2012-09 /pmc/articles/PMC3564082/ /pubmed/23399541 Text en © 2012 Iranian Journal of Pediatrics & Tehran University of Medical Sciences http://creativecommons.org/licenses/by-nc/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution NonCommercial 3.0 License (CC BY-NC 3.0), which allows users to read, copy, distribute and make derivative works for non-commercial purposes from the material, as long as the author of the original work is cited properly.
spellingShingle Original Article
Akhavan-Niaki, Haleh
Banihashemi, Ali
Azizi, Mandana
Beta Globin Frameworks in Thalassemia Major Patients from North Iran
title Beta Globin Frameworks in Thalassemia Major Patients from North Iran
title_full Beta Globin Frameworks in Thalassemia Major Patients from North Iran
title_fullStr Beta Globin Frameworks in Thalassemia Major Patients from North Iran
title_full_unstemmed Beta Globin Frameworks in Thalassemia Major Patients from North Iran
title_short Beta Globin Frameworks in Thalassemia Major Patients from North Iran
title_sort beta globin frameworks in thalassemia major patients from north iran
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3564082/
https://www.ncbi.nlm.nih.gov/pubmed/23399541
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