Biotechnology Research Centre, Molecular Medicine Department, Pasteur Institute of Iran, Tehran, Iran.
Clin Biochem. 2012 Feb;45(3):267-71. doi: 10.1016/j.clinbiochem.2011.11.013. Epub 2011 Dec 8.
To compare the gene dosage results achieved by a novel multiplex quantitative assay with cytogenetic and quantitative fluorescent polymerase chain reaction (QF-PCR) analysis for prenatal screening of trisomy 21 syndrome on corresponding fetal samples.
Fetal samples (n=134) were collected from pregnant women considered high risk for having trisomy 21 affected fetus. Cytogenetic analysis and QF-PCR were performed. Then, the relative gene dosage of DSCAM and DYRK1A2 genes was determined on corresponding samples using comparative delta cycle of threshold (ΔC(T)) method.
The mean gene dosage ratio was 1.55 ± 0.11 (95% CI:1.51-1.58) in trisomy 21 cases and 1.01 ± 0.12 (95% CI:0.98-1.03) in normal samples (p value<0.001). The results were in agreement to the results of cytogenetic and QF-PCR analysis with the overall specificity of 0.96 (95% CI:0.91-0.98) and the sensitivity of 0.80 (95% CI:0.49-0.94).
This gene dosage assay is appropriate for the screening of high risk pregnant women and is readily amenable to automation.
比较一种新型多重定量分析与细胞遗传学和荧光定量聚合酶链反应（QF-PCR）分析在产前筛查唐氏综合征 21 三体时对应胎儿样本的基因剂量结果。
从被认为怀有唐氏综合征 21 三体胎儿风险较高的孕妇中收集胎儿样本（n=134）。进行细胞遗传学分析和 QF-PCR。然后，使用比较 delta 循环阈值（ΔC（T））法确定相应样本中 DSCAM 和 DYRK1A2 基因的相对基因剂量。
21 三体病例的平均基因剂量比为 1.55±0.11（95%CI：1.51-1.58），正常样本为 1.01±0.12（95%CI：0.98-1.03）（p 值<0.001）。结果与细胞遗传学和 QF-PCR 分析结果一致，总体特异性为 0.96（95%CI：0.91-0.98），敏感性为 0.80（95%CI：0.49-0.94）。
这种基因剂量检测方法适用于高危孕妇的筛查，并且易于自动化。
