应用多重连接依赖探针扩增技术快速检测胎儿染色体非整倍体异常  

Application of multiplex ligation-dependent probe amplification for rapid detection of aneuploidies in prenatal diagnosis

作　　者：马定远[1] 胡平[1] 张菁菁[1] 易龙[2] 季修庆[1] 杨驰[2] 成建[1] 李璃[1] 林颖[1] 许争峰[1] 

机构地区：[1]南京医科大学附属南京市妇幼保健院,210004 [2]南京大学医学院病理学教研室

出　　处：《中华医学遗传学杂志》2011年第5期543-547,共5页Chinese Journal of Medical Genetics

基　　金：基金项目：国家自然科学基金（30872782）;江苏省自然科学基金（BK2008077）;南京市科技局基金（200801094）

摘　　要：目的探讨多重连接依赖探针扩增（multiplex ligation-dependent probe amplification，MLPA）技术在常见染色体非整倍体异常检测及其在产前诊断中的应用价值。方法应用MLPA技术检测561份产前诊断样本和20例已知染色体异倍体标本，所有样本均进行常规染色体核型分析，比较MLPA结果和染色体核型分析结果，评价MLPA技术的临床符合率。结果MLPA技术能够在48h内出具检测结果，共检测出38例染色体异倍体，包括20例21-三体，10例18-三体，1例13-三体，4例Turner综合征，1例Klinefelter综合征，1例超雄综合征，1例48，XYY，＋18双三体综合征。MLPA结果与染色体核型结果一致，检测结果100％准确。在561份产前诊断样本中，有550份样本的MLPA分析结果和细胞染色体核型的结果一致，临床符合率达到98．04％。结论MLPA技术具有快速、简单、稳定等优点，可检测常见非整倍体异常，能作为产前诊断的可靠方法，具有临床实际应用价值。Objective To determine the applicability of multiplex ligation-dependent probe amplification （MLPA） for rapid detection of aneuploidies in prenatal diagnosis. Methods A total of 561 prenatal samples were analyzed in parallel by MLPA and traditional karyotyping. Another 20 clinical samples with known common chromosome abnormalities were also determined by MLPA to evaluate the accuracy and reliability of MLPA. The results obtained from MLPA were compared with that from traditional karyotyping. Results The results were available within 48 h. A total of 38 aneuploidies were identified by MLPA, including 20 cases of trisomy 21, 10 cases of trisomy 18, 1 case of trisomy 13, 4 cases of Turner syndrome, 1 case of Klinefelter syndrome, 1 case of 47, XYY trisomy and 1 case of 48,XYY, ＋18. MLPA was able to detect all the expected aneuploidies with 100% accuracy. The results obtained from MLPA agreed with traditional karyotyping. Among 561 prenatal samples, the results of 550 samples were concordant with those of karyotyping, and the coincidence rate of MLPA was 98.04%. Conclusion MLPA is a rapid, simple and reliable method for detection of the most common chromosome aneuploidies in prenatal diagnosis. MLPA is a valuable tool in prenatal clinical practice.

关 键 词：多重连接依赖探针扩增 产前诊断 非整倍体 核型分析 

分 类 号：R714.5[医药卫生—妇产科学]