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目的探讨实时荧光定量PCR技术用于产前诊断唐氏综合征的可行性。方法采用实时荧光定量PCR法,分别检测85例唐氏综合征高风险的中期妊娠妇女的羊水和7例智残儿外周血标本中,21号染色体上特异区域基因片段(DSCR3)和管家基因片段(GAPDH),并计算两者的比值。同时采用细胞遗传学方法分析其染色体核型。结果80例羊水细胞DNA检测DSCR3/GAPDH比值在046～130之间,染色体核型全部正常;而另5例羊水细胞和7例智残儿外周血DSCR3/GAPDH比值明显升高,达164～198,染色体核型均为21三体。5例中有3例核型为47,XY,+21;1例核型为47,XX,+21;另1例为易位型[46,XY,-15,+t(15;21)]。7例智残儿中4例为47,XY+21;3例为47,XX+21。结论实时荧光定量PCR技术可作为产前快速准确诊断唐氏综合征的有效方法。
Objective To explore the feasibility of using real-time fluorescence quantitative PCR in prenatal diagnosis of Down Syndrome. Methods Real-time fluorescent quantitative PCR was used to detect 85 cases of Down’s syndrome high risk middle-term pregnant women’s amniotic fluid and 7 cases of paranasal cholinergic peripheral blood samples, chromosome 21 specific region gene fragment (DSCR3) and housekeeping gene fragment (GAPDH), and calculate the ratio between the two. At the same time using cytogenetic analysis of its karyotype. Results The ratio of DSCR3 / GAPDH in 80 cases of amniotic fluid cells was between 046 and 130, and the karyotypes were all normal. The ratio of DSCR3 / GAPDH in peripheral blood of the other 5 cases of amniotic fluid cells and 7 cases of Chi-Chi children was significantly increased to 164 ~ 198 , Chromosome karyotype are trisomy 21. The karyotype was 47, XY, + 21 in 5 cases, 47, XX, + 21 in 1 case and translocation in the other case [46, XY, -15, + t ]. Among the seven cases, 4 were 47, XY + 21, and 3 were 47, XX + 21. Conclusion Real-time fluorescence quantitative PCR can be used as an effective method for rapid and accurate diagnosis of Down Syndrome in prenatal period.