【摘要】 目的:探索快速诊断21-三体综合征的新方法。方法:应用21号染色体特异性引物对30例智力低下儿童外周血淋巴细胞标本进行引物原位标记(prim ed in situ labeling,PR INS),同时与传统细胞遗传学核型分析技术进行比较。结果:在间期核和中期分裂相中,PR INS技术均能特异性地检测出21号染色体。在11例21-三体综合征患儿标本中,21号染色体标记率平均为89%;在19例非21-三体综合征患儿标本中,21号染色体标记率平均为93%。荧光杂交信号清晰,整个检测反应在24 h内完成。结论:引物原位标记技术可快速、准确地检测21号染色体的数目异常,有助于对传统细胞遗传学检测方法的验证和补充。更多还原

【Abstract】 Objective:To explore a new rapid method for the diagnosis of 21-trisomy syndrome.Methods:The primed in situ labeling(PRINS) reactions with chromosome 21 specific primer were performed on 30 peripheral lymphocyte samples of mental retardation children comparing with chromosome karyotype analysis.Results:The specific chromosomes’ signals were obtained from PRINS on both metaphase and interphase nuclei.In the samples of 21-trisomy,an average of 89 percent had displayed 3 labeling signals,in the samples of non-21-trisomy,an average of 93 percent had displayed 2 labeling signals.Conclusion:PRINS is a rapid and specific method for the detection of chromosome 21 ameuploidy.更多还原