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MLPA技术在检测胎儿非整倍体异常中的应用 被引量：4

Application research of multiplex ligation-dependent probe amplification( MLPA) in prenatal detection of aneuploid abnormalities
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摘要 目的探讨多重探针连接依赖式扩增(multiplex ligation-dependent probe amplification,MLPA)在快速检测胎儿染色体非整倍体异常中的应用价值。方法 344例产前诊断标本同时进行MLPA检测及核型分析,所有样本进行MLPA获得的扩增产物信息经Coffalyser v9.4软件(Holland-MRC公司)进行定量分析,观察样本DNA拷贝数的变化,并将所得结果与染色体核型分析结果进行比较,计算其检测的敏感度、特异度及阳性预测值。结果 MLPA分析在标本接收后24 h内即可得出结果,共检出染色体倍体异常产前诊断标本5例,包括唐氏综合征(Down syndrome,47,+21)6例、爱德华氏综合征(Edwards syndrome,47,+18)1例。MLPA检测24h报告结果临床符合率为97.7%。结论 MLPA检测21、18、13、X、Y等染色体非整倍体疾病时,与核型分析相比较,MLPA是一种快速、高效的分析非整倍体的产前诊断的方法,具有临床应用价值。 Objective： To explore the application value of multiplex ligation - dependent probe amplification （MLPA） in rapid prenatal detection of aneuploid abnormalities. Methods ： 344 amniotic samples were processed in parallel by MLPA aneuploid detection and conventional karyotype analysis. Results： 6 cases of abnormal samples were found within 24 hours after receiving samples, including 5 cases of Down syndrome, 1 cases of Edwards syndrome. The coincidence rate of MLPA was 97.7% with in 24 hours. Conclusion： When using MLPA to detect 13, 18, 21, X and Y chromosome aneuploid abnormalities, MLPA was a rapid and efficient method used for analyzing aneuploids that has the value of clinical applications compared with conventional karyotyping.
作者 冯暄 张庆华 闫有圣 梁济慈 郝胜菊
机构地区 甘肃省妇幼保健院医学遗传中心
出处 《中国优生与遗传杂志》 2013年第12期62-65,共4页 Chinese Journal of Birth Health & Heredity
关键词 多重探针连接依赖式扩增 产前诊断 非整倍体染色体异常 MLPA Chromosome aneuploid Prenatal diagnosis
分类号 R714.5 [医药卫生—妇产科学]
  • 相关文献

参考文献9

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二级参考文献76

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共引文献27

同被引文献35

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引证文献4

二级引证文献14

中国优生与遗传杂志
2013年 第12期

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