CAJ | 학술논문

目的探讨多重连接依赖探针扩增技术(multiplex ligation-dependent probe amplifiea-tion,MLPA)在检测胎儿非整倍体染色体异常中的作用. 方法 2007年6月至2008年12月对263例需进行产前诊断的孕妇(产前诊断组)取羊水或脐血进行MLPA检测,同时进行传统的染色体核型分析.对26例发生稽留流产或死胎的孕妇取胎儿组织提取DNA进行MLPA检测. 结果产前诊断组检出5例21-三体,4例18-三体,1例13-三体和3例45,X,与细胞核型分析结果一致.稽留流产或死胎组检出2例45,x和1例18-三体. 结论 MLPA可用于检测胎儿最常见的13、18、21、X、Y染色体非整倍体异常,用于产前诊断,快速简单,准确经济,有一定的临床推广价值.
목적 탐토다중련접의뢰탐침확증기술(multiplex ligation-dependent probe amplifiea-tion,MLPA)재검측태인비정배체염색체이상중적작용. 방법 2007년6월지2008년12월대263례수진행산전진단적잉부(산전진단조)취양수혹제혈진행MLPA검측,동시진행전통적염색체핵형분석.대26례발생계류유산혹사태적잉부취태인조직제취DNA진행MLPA검측. 결과 산전진단조검출5례21-삼체,4례18-삼체,1례13-삼체화3례45,X,여세포핵형분석결과일치.계류유산혹사태조검출2례45,x화1례18-삼체. 결론 MLPA가용우검측태인최상견적13、18、21、X、Y염색체비정배체이상,용우산전진단,쾌속간단,준학경제,유일정적림상추엄개치.
Objective To investigate the role of muhiplex ligation-dependent probe amplification(MLPA) in identifying fetal aneuploidy of chromosomes 13,18,21,X,and Y. Methods From June 2007 to December 2008,263 samples(prenatal diagnosis group),including amniotic or umbilical cord blood from pregnant women who required prenatal diagnosis,were processed in parallel by MLPA and conventional karyotype to detect fetal aneuploidy.Another 26 samples(fetal death group).ineluding retained abortion and fetal death,were also processed bv MLPA. Results Five cases of 21-trisomy,4 eases of 18-trisomy,1 case of 13-trisomy and 3 cases of 45,X were identified among the prenatal diagnosis group by MLPA,and the results were consistent with karyotype.Two cases of 45,X and 1 case of 18-trisomy were identified among the retained abortion and fetal death group. Conclusions MLPA is a rapid,efficient,simple,reliable and economical technique in detecting most common chromosomal aneuploidies and have important clinical value.