应用实时荧光定量PCR快速分子诊断唐氏综合征

目的探讨一种快速、准确诊断唐氏综合征的方法。方法采用实时荧光定量PCR技术，对25例唐氏患者、50名正常人外周血标本，扩增21号及1号、19号染色体上的多态位点，定量分析比较正常组及唐氏患者组的4对△Ct值。结果唐氏患者组△Ct值明显低于正常组，两组比较差异有统计学意义（P〈0．001）。初步建立了临床应用的参考值范围，可以有效区分出唐氏样本和正常样本。结论应用实时荧光定量PCR技术可快速、准确诊断唐氏综合征，为唐氏综合征的快速产前诊断开辟了新的途径。

Application of real-time fluorescence quantitative PCR to rapid molecular detection of Down's syndrome

OBJECTIVE: To develop a rapid and reliable technique for the detection of Down's syndrome. METHODS: The peripheral blood samples were collected from twenty-five Down's syndrome patients and fifty normal individuals. Four polymorphic loci on chromosomes 21, 1, 19 were amplified by real-time fluorescence quantitative PCR, and then four pairs of deltaCt values were analytically compared between the two groups. RESULTS: The deltaCt values of Down's syndrome patients were significantly lower than those of normal individuals, and the reference ranges for clinical application were primarily established. The difference between the two groups was highly significant (P < 0.001), and the reference ranges between the two groups were not overlapped. Real-time quantitative PCR technique can effectively differentiates Down's syndrome samples from the normal fetuses; furthermore, the results were consistent with those of the karyotype analysis. CONCLUSION: Real-time quantitative PCR is a fast and reliable method that may provide a new approach for rapid detection of Down's syndrome.