应用甲基化特异性多重连接依赖性探针扩增和甲基化特异性PCR检测Prader-Willi综合征  

DetectingPrader–Willi syndrome with methylation specific multiplex ligation-dependent probe amplification and methylation-specific PCR

作　　者：欧展辉[1,2] 梁雄[1,2] 孙筱放[3] 

机构地区：[1]珠海市人民医院 [2]暨南大学第三附属医院产科,广东省珠海市519000 [3]广州医学院第三附属医院妇产科研究所,广东省广州市510150

出　　处：《中国优生与遗传杂志》2012年第7期22-24,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的比较甲基化特异性多重连接依赖性探针扩增和甲基化特异性PCR两种方法检测Prader–Willi综合征。方法应用细胞遗传学、甲基化特异性多重连接依赖性探针扩增和甲基化特异性PCR方法检测1个Prader–Willi综合征家系。结果甲基化特异性多重连接依赖性探针扩增和甲基化特异性PCR方法均能对患者进行检测,为缺失型致病,而其父母未见异常。结论甲基化特异性多重连接依赖性探针扩增方法检测Prader–Willi综合征比甲基化特异性PCR方法提供更多的致病信息。Objective ： Comparing methylation specific multiplex ligation - dependent probe amplification to methylation - specific PCR methods of detecting Prader - Willi syndrome. Methods ： Using cytogenetic analysis, methylation specific multiplex ligation - dependent probe amplification and methylation - specific PCR methods to detect a Prader - Willi syndrome family. Results ： methylation specific multiplex ligationdependent probe amplification and methylation -specific PCR methods could be used to detect Prader Willi syndrome, and the patient was caused by deletion of relative gene in the 15ql 1 -q13 region, but his parents were normal. Conclusion ： Methylation specific multiplex ligation - dependent probe amplification was able to give more messages than methylation - specific PCR method.

关 键 词：甲基化特异性多重连接依赖性探针扩增 甲基化特异性PCR Prader–Willi综合征 SNRPN基因 

分 类 号：R440[医药卫生—诊断学]