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应用引物原位标记技术快速检测18三体综合征 被引量:1

Rapid detection of 18-trisomy syndrome using primed in situ labeling technique
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摘要 目的 探索应用改良的引物原位标记技术快速检测未培养羊水细胞间期核的可能性。方法采用改良的引物原位标记 (primed in situ labeling,PRINS)技术 ,对 2 6 2份羊水细胞中 18号染色体进行分析检测。结果 在未培养羊水细胞间期核和培养细胞的中期分裂相中 ,PRINS技术均能特异性地检测 18号染色体 ,PRINS反应的成功率为 95 %。并发现两个样本为 18三体综合征。结论 引物原位标记技术是一种简便、快速、经济的染色体检测方法 ,具有较强的敏感性和特异性 ,有助于对传统细胞遗传学的分析。 Objective To develop a rapid method for the detection of chromosomes and try to verify the feasibility of using modified primed in situ labeling (PRINS) technique for rapid detection of the interphase nuclei of uncultured amniocytes. Methods Chromosome 18 was detected and analyzed by the modified PRINS in 262 amniotic fluid samples. Results The specific chromosomes were obtained on both metaphase and interphase nuclei. In more than 95% of the samples, PRINS reactions with primer 18cen were successfully induced. Two samples were properly identified and correctly scored as trisomic 18. Conclusion The results suggest that PRINS technique is simple, rapid and cost-effective. It is sensitive, specific, and thus can enhance the accuracy of standard cytogenetic analysis.
作者 杨建滨 郑树
出处 《中华医学遗传学杂志》 CAS CSCD 2004年第1期74-76,共3页 Chinese Journal of Medical Genetics
关键词 引物原位标记技术 快速检测 18三体综合征 产前诊断 primed in situ labeling prenatal diagnosis chromosome 18
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