非同位素PCR及Southern印迹杂交分析检测脆性X综合征FMR-1基因突变

目的建立一种非同位素的检测脆性X综合征智力缺陷基因(FMR-1)突变的方法.方法采用PCR技术结合Southern 印迹杂交技术对FMR-1基因进行分析,进而确定其突变类型.结果共对190例样本进行了检测,其中2例为女性前突变携带者,1例为女性全突变患者.结论非同位素PCR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,可作为临床上对脆性X综合征的筛查的首选方法;而非同位素Southern印迹杂交可对结果不确定者进一步进行检测.

FMR-1 gene mutation of the fragile X syndrome were analyzed by non-isotope PCR and Southern blot hybridization

Objective: To establish a method of non-isotope to detect the FMR-1 gene mutation of fragile X syndrome.Methods: To analyze the FMR-1 gene by non-isotope PCR combining with non-isotope Southern blot hybridization.Results: 190 samples were analized , two pre-mutation and one full-mutation were detected .Conclusion: Non-isotope PCP is a simple?safe?and stable method for analyzing the CGG copies of FMR-1 gene ,which can be used to screen the fragile X syndrome at first and non-isotope Southern blot hybridization can be used to confirm the gene mutation then after.