论文部分内容阅读
目的评估IdentifierTM系统在产前基因诊段中的作用。方法采用IdentifierTM试剂盒对100例羊水标本和20例绒毛及其孕妇进行检测,排除母体组织污染后行相应基因检测,对于有母源性DNA污染标本进行羊水细胞培养。结果 100例羊水标本和20例绒毛中,9例羊水标本有母源性DNA污染和4例绒毛标本为母亲组织;羊水标本经培养后,再检测均无污染。2例21-三体、1例18-三体和1例13-三体。结论 IdentifierTM系统不但可对标本的采样、运送、DNA提取等过程进行了监控,还可检测胎儿性别,同时可快速诊断胎儿是否21、18和13-三体;另外对污染的羊水标本进行羊水细胞培养,达到去除污染的目的,这样可避免受检者重新取材。
Objective To assess the role of the IdentifierTM system in prenatal genetic diagnosis. Methods 100 cases of amniotic fluid samples and 20 cases of chorionic villus and their pregnant women were tested with IdentifierTM kit, the corresponding gene was detected after removing the contamination of maternal tissues, and the amniotic fluid cells were cultured for maternal DNA contamination. Results Of 100 cases of amniotic fluid samples and 20 cases of villi, 9 cases of amniotic fluid samples were maternal DNA contamination and 4 cases of villi specimens for the mother organization; amniotic fluid specimens after culture, then no pollution test. 2 cases of 21-trisomy, 1 case of 18-trisomy and 1 case of 13-trisomy. Conclusions The IdentifierTM system can not only monitor the sampling, delivery and DNA extraction of samples, but also detect the sex of the fetus and quickly diagnose whether the fetuses are 21, 18 and 13-trisomy. In addition, the amniotic fluid cells Training, to achieve the purpose of pollution removal, so as to avoid the subjects to re-draw.