来自伊朗北部重型地中海贫血患者的β珠蛋白框架
Beta globin frameworks in thalassemia major patients from north iran.
作者信息
Akhavan-Niaki Haleh, Banihashemi Ali, Azizi Mandana
机构信息
Cellular and Molecular Biology Research Center, Babol University of Medical Sciences, Babol, Iran ; Genetic Laboratory, Amirkola Children's Hospital, Babol University of Medical Sciences, Babol, Iran.
出版信息
Iran J Pediatr. 2012 Sep;22(3):297-302.
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.
目的
据报道，人类β珠蛋白基因中rs713040、rs10768683、rs7480526、rs7946748和rs1609812处五个中性序列变化的四种组合被定义为框架。在此，我们报告了这些框架在伊朗北部重型地中海贫血患者中的频率。
方法
采用变性梯度凝胶电泳法测定了46例伊朗北部重型地中海贫血患者的β珠蛋白基因框架。
结果
所有这些框架，即框架1、2、3、3a，出现的频率分别为23.9%、45.7%、6.5%和23.9%。
结论
这些框架可用于产前诊断项目中追踪突变等位基因。
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