【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 ,可作为临床上筛查脆性X综合征的首选方法更多还原

【Abstract】 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.更多还原