生物技术通报
生物技術通報
생물기술통보
BIOTECHNOLOGY BULLETIN
2010年
1期
147-152
,共6页
赵宏宇%蔡禄%赵秀娟%王晶妍%陈元秀%刘水峰
趙宏宇%蔡祿%趙秀娟%王晶妍%陳元秀%劉水峰
조굉우%채록%조수연%왕정연%진원수%류수봉
GAA%Friedreich共济失调%丝裂霉素C%甲基磺酸乙酯%不稳定性
GAA%Friedreich共濟失調%絲裂黴素C%甲基磺痠乙酯%不穩定性
GAA%Friedreich공제실조%사렬매소C%갑기광산을지%불은정성
GAA%Friedreich ataxia%Mitomycin C%Ethyl methane%sulfonate%Instability
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.
Friedreich共濟失調是由位于FRDA基因上的GAA重複序列動態突變擴增所引起的,目前其不穩定性機製還不清楚.為瞭探索化學藥物對GAA重複序列的作用,本實驗構建瞭含有(GAA)_42的重組質粒,轉入大腸桿菌中,分彆經過絲裂黴素C和甲基磺痠乙酯連續多次處理後,檢測其長度變化髮現,兩種化學藥物在不同程度上都可以促使(GAA)42髮生刪除,且刪除後長度多數處于體內的正常範圍.試驗結果錶明,化學藥物可以促進與Friedreich共濟失調相關的GAA重複序列髮生刪除.本工作為研究Friedreich共濟失調的緻病機理及治療方案奠定瞭一定的基礎.
Friedreich공제실조시유위우FRDA기인상적GAA중복서렬동태돌변확증소인기적,목전기불은정성궤제환불청초.위료탐색화학약물대GAA중복서렬적작용,본실험구건료함유(GAA)_42적중조질립,전입대장간균중,분별경과사렬매소C화갑기광산을지련속다차처리후,검측기장도변화발현,량충화학약물재불동정도상도가이촉사(GAA)42발생산제,차산제후장도다수처우체내적정상범위.시험결과표명,화학약물가이촉진여Friedreich공제실조상관적GAA중복서렬발생산제.본공작위연구Friedreich공제실조적치병궤리급치료방안전정료일정적기출.
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 normal range in vivo.The results showed that chemical drugs could promote deletion of GAA triplet repeat associated with friedreich ataxia.The work was the basis of further study of pathogenesis and treatment of friedreich ataxia.
