胎盘特异性基因4 mRNA基因在孕妇外周血中的检测及临床价值

目的:应用实时荧光定量PCR(RT-PCR)技术对不同孕周孕妇外周血浆胎盘特异性基因4(PLAC4)m RNA基因进行检测,寻找唐氏综合征产前诊断的可靠生物学标志物,为无创性产前诊断提供新的突破口。方法:按入组标准随机选取健康育龄未妊娠女性5例,正常健康妊娠孕妇60例(早期妊娠20例、中期妊娠20例、晚期妊娠20例),唐氏筛查高危孕妇8例,正常分娩24 h女性5例。共收集外周血浆样本78例。应用RT-PCR技术,检测样本中的PLAC4 m RNA基因含量,并进行相对定量分析。结果:健康育龄未妊娠女性及正常分娩后24 h女性外周血浆中均无游离胎儿PLAC4 m RNA基因的存在;正常健康妊娠孕妇不同孕周标本均检测到PLAC4 m RNA基因,以早期妊娠作为对照,中期妊娠是早期妊娠的1.99倍,晚期妊娠是早期妊娠的3.73倍;唐氏筛查高危孕妇均检出PLAC4 m RNA基因,含量是早期妊娠的6.36倍。结论:PLAC4 m RNA基因有望成为唐氏综合征产前诊断的可靠性生物学标志物。

Detection and Clinical Value of PLAC4 mRNA Gene in Peripheral Blood of Pregnant Women

ABSTRACT Objective: Real-time fluorescence quantitative PCR(RT-PCR) was used to detect the placenta-specific gene 4 (PLAC4) gene in the peripheral plasma of pregnant women at different gestational weeks in order to find reliable biomarkers for prenatal diagnosis of Down''s syndrome and provide a new breakthrough for non-invasive prenatal diagnosis. Methods: According to the standard, 5 healthy non-pregnant women, 60 normal pregnant women (including 20 early pregnancy, 20 medium-term pregnancy and 20 late pregnancy), 8 down syndrome screening high-risk pregnant women and 5 postpartum 24 h women were randomly selected. Then 78 peripheral blood samples were collected from them. Detection of PLAC4 gene content in samples by RT-PCR and relative quantitative analysis. Results: None of healthy non-pregnant women and postpartum 24 h women have detected the PLAC4 mRNA gene, Normal pregnancy at different gestational weeks has detected the PLAC4 mRNA gene. Early pregnancy as a control, PLAC4 mRNA gene content of the medium-term pregnancy was 1.99 times of early pregnancy and late pregnancy PLAC4 mRNA content was 3.73 times of early pregnancy. Down syndrome screening high-risk pregnant women has detected the PLAC4 mRNA gene and content was 6.36 times of early pregnancy. Conclusion: PLAC4 mRNA gene is expected to become the reliable biological indicator of prenatal diagnosis of Down''s syndrome.