应用引物原位标记技术快速诊断先天愚型

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

目的 :为发展快速诊断先天愚型的方法 ,方法 :利用 2 1号染色体α -卫星序列 ,设计特异性引物直接在分裂间期和中期细胞上作引物原位标记。结果 :先天愚型三体型间期细胞核中和中期染色体上观察到 3个标记信号。正常对照组为2个标记信号 ,平均标记效率分别分 90 .8%、91.3%。先天愚型嵌合型显示 2个和 3个标记信号 ,并且各占一定的比例。结论 :引物原位标记技术可直接在淋巴细胞间期核中进行 ,4～ 5h内能对先天愚型患者作出快速、准确的诊断。

The:To develop a rapid technique for detection Down's syndrome. Method: In order to detect fluorescence signals of chromosome 21 in metaphase and interphase directly, a pair of specific primers were designed basing on that of α-satellite sequence. Results:Three of fluorescence signals were observed in metaphase and interphase cells for Down's syndrome, and two of signals were observed for normal peripheral blood lympocytes as control. The average efficiency of labelling of those was 90.8% and 91.3% respectively. The mosaic types of Down's syndrome displayed proportionally 2 or 3 fluorescence signals. Conclusions: The results suggest that lyphocytes in metaphase or interphase could be labelled in PRINS technique, and Down's syndrome could be detected accurately in 4-5 hours as well. So a new approach may be built for identifying abnormal chromosomes in prenatel diagnosis.