引物原位标记技术在人类染色体非整倍体嵌合体诊断中的应用

Application of primed in situ labeling technique in diagnosis of human chromosomal aneuploidy chimera

目的:探讨快速和准确诊断人类染色体非整倍体嵌合体的新方法。方法:采用引物原位标记(PRINS)技术和染色体G显带技术检测2例21三体嵌合体和3例Turn综合征嵌合体,并比较其结果。结果:在间期核和中期分裂相中,PRINS技术均能特异性地检测出21号和X染色体,其标记率分别为90%和89%;PRINS技术检测的21三体嵌合体和Turn综合征嵌合体100个细胞中,异常核型细胞数目高于染色体G显带技术检测。结论:PRINS技术能够快速、准确地检测染色体数目异常,与染色体G显带技术相结合,可提高人类染色体非整倍体嵌合体诊断的准确性。

Objective： To explore a new rapid and specific method for diagnosis of human chromosomal aneuploidy chimera. Methods ： Primed in situ labeling technique and chromosomal G band technique were used to detect chimera of two cases with triso- my 21 and three cases with Turn syndrome, then the results were compared. Results： During interphase and nuclear fission during meta- phase, primed in situ labeling technique detected 21 and X chromosomes specifically, the labeling rates were 90% and 89% , respectively. The number of cells with abnormal karyotypes among 100 cells of trisomy 21 and Turn syndrome detected by primed in sltu labeling technique was higher than that detected by chromosomal G band. Conclusion： Primed in situ labeling technique can rapidly and accurately detect chro- mosomal numerical abnormality, combined with chromosomal G band, which can improve the accuracy of diagnosis of human ehromosomal aneuploidy chimera.