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

作　　者：林孟思 朱庆文[1] 徐爱萍[1] 王靖[1] 张玲莉[1] 卞文君 

机构地区：[1]南通市妇幼保健院,江苏南通226000

出　　处：《中国优生与遗传杂志》2017年第8期35-36,F0002,共3页Chinese Journal of Birth Health & Heredity

摘　　要：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.

关 键 词：产前诊断 MLPA技术 性染色体异常 

分 类 号：R714.5[医药卫生—妇产科学]