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  

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

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,215006

出　　处：《中国优生与遗传杂志》2005年第4期16-18,共3页Chinese Journal of Birth Health & Heredity

基　　金：江苏省卫生厅资助;项目编号 (H9911)

摘　　要：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。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.

关 键 词：非同位素PCR Southern印迹杂交分析 检测 脆性X综合征 FMR-1基因 突变 

分 类 号：R446.9[医药卫生—诊断学]