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

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。

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

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.