PRINS技术标记绒毛细胞间期核21号染色体的研究

Use of the primed in situ labeling technique for rapid detection of chromosome 21 in villus interphase nuclei samples

目的 探索妊娠早期诊断唐氏综合征的新方法。方法 应用 2 1号染色体特异的α -卫星DNA序列引物对 7份早孕绒毛间期细胞标本进行了引物原位标记反应。结果 7份标本中 ,平均 93 %的细胞核显示 2个标记信号。荧光信号清晰明亮 ,整个反应在 4～ 5h内完成。结论 引物原位标记技术可于妊娠早期快速检测绒毛间期细胞 2 1号染色体数目异常 。

Objective To study a new diagnostic method for Down's syndrome in first trimester pregnancy.?Methods The primed in situ labeling (PRINS) reactions were performed with chromosome 21 specific oligonucleotide primer.?Results Primer 21 provided strong and well defined signals in 4-5 h on 7 villus interphase nuclei samples. The efficiency of labeling was 89%-96% (mean=93%).?Conclusion PRINS may be a reliable technique for prenatal detection of chromosome 21 aneuploidies.