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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Detalles Bibliográficos
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
Descripción
Sumario: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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