多重连接依赖的探针扩增(MLPA)技术在自然流产样本检测中的应用  

Application of multiples ligation-dependent probe amplification(MLPA) in the detection of spontaneous abortion samples

作　　者：刘敏娟[1] 段程颖[1] 王玮[1] 阚慧娟[1] 孙健[1] 王挺[1] 李红[1] 陈瑛[1] 

机构地区：[1]南京医科大学附属苏州医院生殖与遗传中心,苏州215002

出　　处：《复旦学报（医学版）》2013年第1期83-87,共5页Fudan University Journal of Medical Sciences

基　　金：江苏省"十二.五"教科兴卫工程医学重点人才项目(RC2011036);苏州市科技局社会发展项目(SS08019)~~

摘　　要：目的评价多重连接依赖的探针扩增(multiplex ligation-dependent probe amplification,MLPA)技术在自然流产组织遗传学分析中的临床应用价值。方法采用常规染色体核型分析和MLPA产前非整倍体筛查试剂盒对12例胚停后行清宫术的绒毛组织样本进行检测。结果核型分析12例绒毛样本仅11例得到结果,而MLPA成功分析12例样本。两种方法均成功分析的样本中,7例为非整倍体,1例为结构异常。结构异常的样本核型分析无法定位,由MLPA法检测明确拷贝数异常的区间。1例非整倍体样本核型分析无法明确多余的染色体来源,MLPA检测明确了其来源。结论 MLPA技术在流产病因检测上可以作为核型分析的重要补充。Objective To evaluate the amplification （MI.PA） technology in genetic clinical application of multiplex ligation dependent probe testing for spontaneous abortion. Methods Conventional karyotyping and MI.PA were both used for the detection of 12 chorionic villus from the arrested embryos obtained by uterine curettage. Results All the 12 samples were successfully analyzed by MI.PA,and one of them was failed by karyotyping. Seven samples were showed aneuploidy by karyotyping and MLPA. The source of an extra chromosome in one case of aneuploidy couldn＇t be identified by karyotyping correctly while it could by MLPA. One case was showed structural abnormality, which couldn＇t be defined the coverage of copy number variation by karyotyping,while it could by MLPA. Conclusions MLPA would be used as an important complement to karvotvDing in genetic analysis of the cause of abortion.

关 键 词：多重连接依赖的探针扩增技术(MLPA) 自然流产 非整倍体 

分 类 号：R394.3[医药卫生—医学遗传学]