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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 method for rapid and accurate diagnosis of aneuploid chimera in human chromosomes. Methods: Two cases of trisomy 21 and three cases of Turn syndrome were detected by PRINS and G banding technique, and the results were compared. Results: In the interphase and metaphase, the PRINS technique could specifically detect chromosomes 21 and X with the labeling rates of 90% and 89% respectively. The trisomy 21 and the Turn integrated In the 100 chimeric cells, the number of abnormal karyotype cells was higher than that of chromosome G banding technique. Conclusion: The PRINS technique can detect chromosome abnormalities rapidly and accurately, and combined with G-banding technique can improve the accuracy of human chromosome aneuploidy diagnosis.