应用引物原位标记技术快速诊断唐氏综合征

Use the primed in situ labeling technique for a rapid detection of Down's syndrome

目的 探索快速诊断唐氏综合征的方法。方法 应用 2 1号染色体特异的寡核苷酸引物对 12份外周血淋巴细胞培养标本进行了引物原位标记反应。结果 4例唐氏综合征患儿标本中 ,中期分裂相 2 1号染色体标记率平均为 99% ,平均 93%的间期细胞核显示 3个标记信号。 8例习惯性流产夫妇的标本中 ,中期分裂相 2 1号染色体标记率平均为 98% ,平均 91%的间期细胞核显示 2个信号。荧光信号清晰明亮 ,整个反应在 4～ 5小时内完成。结论 应用引物原位标记技术可快速准确检测 2 1号染色体数目异常 ,诊断唐氏综合征。

Objective To detect Downs syndrome rapidly.Methods The primed in situ labeling(PRINS) reactions were performed on 12 preripheral lymphocyte samples with chromosome 21 specific oligonucleotide primer.Results Primer 21 provided strong and well defined signals on both metaphases and interphase nuclei in trisomy 21 samples and disomic karyotype.In the samples of trisomy 21,an average of 99 per cent metaphases and an average of 93 per cent interphase nuclei had displayed 3 labeling signals.By contrast,in 8 samples with disomic karyotype,an average of 98 per cent metaphases and an average of 91 per cent interphase nuclei had displayed 2 labeling signals.Conclusion PRINS can provide a rapid and accurate method for the diagnosis of Downs syndrome.