应用引物原位标记技术快速检测X和18号染色体

目的为发展快速检测人类染色体的技术。方法应用原位引物标记（ＰＲＩＮＳ）在８例女性外周血淋巴细胞培养标本中检测了Ｘ、１８号染色体。结果在间期核及分裂相中均能特异地检测Ｘ、１８号染色体，Ｘ染色体的标记效率为８４％～９２％（平均８９％），１８号染色体为７３％～８７％（平均８４％）。标本经适当浓度的蛋白酶Ｋ处理后可以明显提高标记效率，增强标记信号。标记反应可利用原位ＰＣＲ仪进行，不到一小时即可完成。结论原位引物标记是一种快速、特异的染色体检测方法，利用这一技术将有可能在产前快速诊断染色体非整倍体。

USE OF THE PRIMED IN SITU LABELING TECHNIQUE FOR A RAPID DETECTION OF CHROMOSOMES X,18

Objective To develop a rapid method for detection of chromosomes.Methods Chromosomes X, 18 were detected by the primed in situ labeling (PRINS) in eight samples of female peripheral blood cultures. Results Specific chromosomes were obtained on both metaphase and interphase nuclei. The efficiency of labeling was 84%-92%(mean=89%) in chromosome 18, and 73%-87%(mean=84%) in chromosome X. The pretreatment of slides by proteinase K markedly raised the efficiency of labeling and increased the intensity of signals. PRINS reaction could be performed automatically with a programmable thermocycler in less than one hour. Conclusion The results suggest that PRINS is a fast and specific method for identifying chromosomes. It may be a reliable technique for detecting aneuploid in prenatal diagnosis.