化学药物对与人遗传病相关的DNA重复序列不稳定性的影响  

The Effect of Chemical Drugs on the Instability of DNA Repeat Sequence Associated with Human Genetic Diseases

作　　者：赵宏宇[1,2] 蔡禄[1,2] 赵秀娟[1,2] 王晶妍[1,2] 陈元秀[1] 刘水峰[1] 

机构地区：[1]内蒙古科技大学数理与生物工程学院,包头014010 [2]内蒙古科技大学生物工程与技术研究所,包头014010

出　　处：《生物技术通报》2010年第11期153-156,161,共5页Biotechnology Bulletin

基　　金：国家自然科学基金项目(30460038);内蒙古自然科学基金重点项目(200508010102)

摘　　要：DNA重复序列异常扩增或删除会引起多种人类遗传疾病,目前其不稳定性机制还不清楚。为了探索化学药物对重复序列的作用,采用甲基磺酸乙酯和丝裂霉素C连续多次处理含重复序列质粒的菌体,通过检测重复序列长度的变化,发现两种化学药物在不同程度上可以促使含(GAA)42和(ATTCT)43质粒发生删除,而含(GCCT)18质粒的长度没有发生变化。About 40 human genetic diseases are associated with abnormal expansion or deletion of DNA repeat sequences,and the mechanisms for its instability were poorly understood.In order to explore drugs effect on repeat sequences,the plasmids containing repeat sequences were treated for several times by MMC and EMS.It was found that two chemical drugs could result in deletion of plasmids containing（GAA）42 and（ATTCT）43 in different extent,whereas the length of plasmids containing（GCCT）18 maintains unchanged.The work was the basis of further study of pathogenesis and treatment of genetic diseases associated with repeat sequences.

关 键 词：重复序列 遗传病 丝裂霉素C 甲基磺酸乙酯 不稳定性 

分 类 号：R596[医药卫生—内科学]