MLPA技术在检测胎儿性染色体非整倍体异常中的应用

Application research of multiplex ligation-dependent probe amplification(MLPA)in prenatal detection of sex chromosome aneuploidy abnormality

目的探讨多重探针连接依赖式扩增(multiplex ligation-dependent probe amplification,MLPA)技术在胎儿性染色体非整倍体异常的相关检测中的应用。方法 4例性染色体异常的样本进行MLPA检测及染色体核型分析,MLPA所得数据通过Coffalyser v9.4软件(Holland-MRC公司)进行分析,依据样本DNA拷贝数的变化,判断有无异常。并且与染色体核型分析结果进行比较和分析。结果 4例性染色体异常胎儿经MLPA分析,结果显示对应的染色体区域呈现探针信号异常,并且与染色体核型分析结果一致。结论 MLPA技术在检测性染色体非整倍体异常中具有重要价值,可以为染色体核型分析结果提供补充。

Objective：To explore the application value of multiplex ligation-dependent probe amplification（MLPA）in prenatal detection of sex chromosome aneuploidy abnormality. Methods：Aneuploid MLPA technology and conventional karyotype analysis were used to analyze 4 samples with sex chromosome abnormalities. Analysis of copy number changes for chromosomes X and Y was carried out with Coffalyzer v9. 4. Results：4 cases of abnormal samples were identified to have abnormal signal of corresponding probes,consistent with the results of karyotype analysis. Conclusion：MLPA technology could have important role in diagnosis of sex chromosome aneuploidy abnormality,which could complement conventional karyotype analysis.