MLPA在产前诊断性染色体嵌合体的应用价值  

Value of MLPA in prenatal diagnosis of chromosomal mosaicism

作　　者：梁福笑[1] 谢润桂[1] 何晓旋 魏顺娣[1] 陈海珍 

机构地区：[1]广东省东莞市妇幼保健院产前诊断中心,广东东莞523000

出　　处：《中国医药科学》2017年第18期101-103,共3页China Medicine And Pharmacy

基　　金：广东省东莞市医疗卫生一般项目(2016105101074)

摘　　要：目的探究多重连接探针扩增技术(MLPA)在产前诊断性染色体嵌合体的价值。方法收集2015年6月~2016年6月东莞市妇幼保健院产前诊断中心经核型分析或MLPA P095非整倍体检测试剂盒检测发现的性染色体嵌合体病例作为研究对象,共11例。比较这两种方法的检测结果,并用荧光原位杂交(FISH)验证性染色体嵌合体的真实性。结果 MLPA结果显示,11例标本中,有9例标本(病例9至病例17)MLPA与核型分析结果均是阳性,其中8例(病例9至病例16)两种结果一致,1例(病例17)结果有差异。有1例(病例18)MLPA检测结果为嵌合体,而核型分析正常,有1例(病例19)核型分析发现嵌合体,而MLPA检测结果正常。FISH检测:除病例16外,其余病例均为真性嵌合体。MLPA、核型分析诊断性染色体嵌合体的灵敏度为90%,符合率为81.82%。结论 MLPA对于产前诊断性染色体嵌合体具有重要意义。Objective To explore the value of multiplex ligation probe amplification（MLPA）technique in prenatal diagnosis of chromosomal mosaicism. Methods 11 cases with sex chromosome mosaicism detected by karyotype analysis or MLPA P095 aneuploidy detection kit in Prenatal Diagnosis Center of Dongguan maternal and child health care hospital from June 2015 to June 2016 were selected as the study object.The detection results of the two methods were compared.Fluorescence in situ hybridization （FISH） was used to verify the authenticity of sex chromosome mosaicism. Results MLPA results showed that among the 11 specimens,there were 9 cases（case9 to case 17 with positive MLPA and karyotype analysis resuhs,8 cases（case 9 to case 16）with consistent results,1 cases（case 17）with different result.There were 1 cases（case 18） with chimerism MLPA detection,however karyotype analysis was normal. There were 1 cases（case 19） with chimerism karyotype analysis,however the MLPA detection was normal.FISH test：in addition to case 16,the remaining cases were true mosaicism.The sensitivity of MLPA and karyotype analysis for diagnosis of chromosomal mosaicism was 90%,and the coincidence rate was 81.82%. Conclusion MLPA is important for prenatal diagnosis of chromosomal mosaicism.

关 键 词：多重连接探针扩增技术(MLPA) 核型分析 荧光原位杂交(FISH) 产前诊断 性染色体嵌合体 

分 类 号：R714.5[医药卫生—妇产科学]