CAJ | 학술논문

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.
목적탐토일충쾌속、준학진단당씨종합정적방법.방법채용실시형광정량PCR기술,대25례당씨환자、50명정상인외주혈표본,확증21호급1호、19호염색체상적다태위점,정량분석비교정상조급당씨환자조적4대△Ct치.결과당씨환자조△Ct치명현저우정상조,량조비교차이유통계학의의(P＜0.001).초보건립료림상응용적삼고치범위,가이유효구분출당씨양본화정상양본.결론응용실시형광정량PCR기술가쾌속、준학진단당씨종합정,위당씨종합정적쾌속산전진단개벽료신적도경.
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 anplified by real-time fluorescence quantitative PCR, and then four pairs of △Ct values were analytically compared between the two groups. Results The △Ct values of Down's syndrome patients were significantly lower than those of normal individuals, and the reference ranges for clinical applica tion were primarily established. The difference between the two groups was highly significant ( P ＜ 0.001 ), and the ref erence 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.