多重连接探针扩增技术检测胎儿非整倍体异常  

Detecting aneuploidies of fetus by multiplex ligation-dependent probe amplification

作　　者：王凤羽 马林先[2] 李聪敏 张华 丰慧根[2] 

机构地区：[1]河南省人口和计划生育科学技术研究院,河南省人口缺陷干预技术研究重点实验室,郑州450002 [2]新乡医学院生命科学技术系,新乡453000

出　　处：《郑州大学学报（医学版）》2012年第5期632-635,共4页Journal of Zhengzhou University(Medical Sciences)

基　　金：河南省科技攻关基金资助项目112102310002

摘　　要：目的:探讨多重连接探针扩增技术(MLPA)在常见染色体非整倍体异常及其在产前诊断中的应用价值。方法:选择200份羊水标本,提取标本DNA,采用MLPA技术对样本染色体进行分析,并与传统染色体核型分析结果进行比较。结果:在200例样本中,除1例因羊水污染应用传统染色体核型分析失败外,其余检测结果与传统染色体核型分析方法的结果一致(21三体4例,18三体3例,13三体1例,X单体1例,X三体1例,其余190例正常)。结论:MLPA技术分析胎儿染色体非整倍体异常是一种简单、快速且有效的方法。Aim：To investigate the application value of the multiplex ligation-dependent probe amplification technique （MLPA） in common aneuploidies and prenatal diagnosis.Methods：A total of 200 amniotic fluid samples were collected.The DNA extracted from amniotic fluid was detected by MLPA. The results of chromosomal G-banding and MLPA of amniotic fluid were compared.Results：Out of 200 samples, the results of 199 by MLPA were consistent with traditional karyotype analysis, including 4 trisomy 21,3 trisomy 18,1 trisomy 13,1 monosomy X,1 female with extra X and 190 normal karyotype. Only one case with contamination was failed to reach conclusion by karyotype analysis.Conclusion：MLPA is a simple, rapid and efficacy method for analyzing aneuploids in amniotic fluid.

关 键 词：多重连接探针扩增技术 非整倍体 核型分析 产前诊断 

分 类 号：R394[医药卫生—医学遗传学]