非同位素PCR方法检测脆性X综合征FMR-1基因CGG重复序列数目  

CGG Repeated Number of Fragile X Syndrome Gene FMR-1 Detected by Nonradioactive PCR Test

作　　者：李红[1] 肖丽娟[1] 韩冰[1] 

机构地区：[1]苏州大学附属第一医院妇产科,苏州215006

出　　处：《苏州大学学报（医学版）》2003年第5期537-539,共3页Suzhou University Journal of Medical Science

基　　金：江苏省卫生厅资助课题 (项目编号H9911)

摘　　要：目的　建立一种可靠、简便的非同位素PCR方法检测脆性X综合征的突变基因。方法　采用生物素标记的CGG寡核苷酸探针 ,检测通过PCR扩增的FMR - 1基因中CGG三核苷酸重复序列数目。从而判断所检样品中FMR - 1基因是否正常。结果　该法可检测出正常人及携带者的CGG重复拷贝数。结论　该方法可以简便、安全、可靠地检测FMR - 1基因中 (CGG)n重复拷贝数 ,从而确定为正常人或携带者 。Objective To develop a reliable and simple ,nonradioactive test for screening fragile X syndrome(FXS) gene mutation. Methods The (CGG) n in the FMR-1 gene was amplified by polymerase chain reation (PCR) and then detected by the hybridization with biotin-labeled CGG oligonucleutide. Results This nonradioactive PCR method was able to amplify the (CGG) n repeated number in normal population and carriers of fragile X syndrome. Conclusion This method is reliable and simple for detection of the (CGG) n in the FXS gene and hence can be used as the screening method for fragile X syndrome clinically.

关 键 词：脆性X综合征 FMR—1基因 非同位素PCR法 

分 类 号：R596[医药卫生—内科学]