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化学药物导致的与Friedreich共济失调相关的GAA重复序列不稳定性的研究
引用本文:赵宏宇,蔡禄,赵秀娟,王晶妍,陈元秀,刘水峰.化学药物导致的与Friedreich共济失调相关的GAA重复序列不稳定性的研究[J].生物技术通报,2010(1).
作者姓名:赵宏宇  蔡禄  赵秀娟  王晶妍  陈元秀  刘水峰
作者单位:1. 内蒙古科技大学数理与生物工程学院,包头014010;内蒙古科技大学生物工程与技术研究所,包头,014010
2. 内蒙古科技大学数理与生物工程学院,包头,014010
基金项目:国家自然科学基金,内蒙古自然科学基金重点项目 
摘    要:Friedreich共济失调是由位于FRDA基因上的GAA重复序列动态突变扩增所引起的,目前其不稳定性机制还不清楚。为了探索化学药物对GAA重复序列的作用,本实验构建了含有(GAA)42的重组质粒,转入大肠杆菌中,分别经过丝裂霉素C和甲基磺酸乙酯连续多次处理后,检测其长度变化发现,两种化学药物在不同程度上都可以促使(GAA)42发生删除,且删除后长度多数处于体内的正常范围。试验结果表明,化学药物可以促进与Friedreich共济失调相关的GAA重复序列发生删除。本工作为研究Friedreich共济失调的致病机理及治疗方案奠定了一定的基础。

关 键 词:Friedreich共济失调  丝裂霉素C  甲基磺酸乙酯  不稳定性

Study on Chemotherapeutic Instability of the GAA Repeat Sequences Associated with Friedreich Ataxia
Zhao Hongyu,Cai Lu,Zhao Xiujuan,Wang Jingyan,Chen Yuanxiu,Liu Shuifeng.Study on Chemotherapeutic Instability of the GAA Repeat Sequences Associated with Friedreich Ataxia[J].Biotechnology Bulletin,2010(1).
Authors:Zhao Hongyu  Cai Lu  Zhao Xiujuan  Wang Jingyan  Chen Yuanxiu  Liu Shuifeng
Institution:Zhao Hongyu1,2 Cai Lu1,2 Zhao Xiujuan1,2 Wang Jingyan1,2 Chen Yuanxiu1 Liu Shuifeng1(1School of Mathematics Physics , Biological Engineering,Inner Mongolia University of Science , Technology,Baotou 014010,2Institute of Bioengineering & Technology,Baotou 014010)
Abstract:Friedreich ataxia was caused by the expansion of a polymorphic and unstable GAA repeat sequences in the FRDA gene,but the mechanisms for its instability were poorly understood.In order to explore drugs effect on GAA repeat sequences,plasmid with(GAA)42was constructed and transformed in E.coli.The repeat sequences were detected after treated by MMC and EMS.It was found that two chemical drugs could result in the deletion of(GAA)42in different extent,and the repeat sequences length of being deleted was in nor...
Keywords:GAA  GAA  Friedreich ataxia  Mitomycin C  Ethyl methane  sulfonate  Instability
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