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目的:分析唐氏综合征(Down syndrome,DS)胎儿孕早期母体血清miRNAs表达谱的改变为探讨血清miRNA在无创产前诊断唐氏综合征胎儿的应用提供理论依据。方法:DS胎儿(羊水细胞G显带核型确诊)母体及正常妊娠母体各5例取其血清,分别等量混合后作为DS组和正常对照组。应用miRCURY LNATMUniversal RT miRNA PCR芯片技术分析miRNA在两组血清中的差异表达。结果:与正常对照组相比,DS组孕妇血清中表达差异的miRNA有81个,其中上调(2-ΔΔCt>2.0倍)的有54个,miRNA-125b、miRNA-99a、let-7c、miRNA-210、miRNA-205、miRNA-532-5p、miRNA-136、miRNA-199a-5p、miRNA409-3p、miRNA-215和miRNA-133b等;下调(2-ΔΔCt<0.5倍,即表达水平为50%以下)的有27个,miRNA-23a、miRNA-17和miRNA-18a等。结论:DS组与健康对照组孕早期母体血清之间存在明显的miRNA差异表达,提示血清miRNA可做为DS胎儿无创产前诊断的早期标记物。
OBJECTIVE: To analyze the changes of maternal serum miRNAs expression in Down syndrome (DS) fetuses in early pregnancy, and to provide theoretical basis for exploring the application of serum miRNAs in noninvasive prenatal diagnosis of Down’s syndrome fetuses. Methods: Serum was obtained from 5 fetuses of DS fetus (G-banding karyotype confirmed by amniotic fluid cells) and normal pregnant women, respectively, which were used as DS group and normal control group. The miRCURY LNATMUniversal RT miRNA PCR chip technique was used to analyze the differential expression of miRNA in both serum groups. RESULTS: There were 81 miRNAs in the serum of pregnant women with DS, which were up-regulated (2-ΔΔCt> 2.0 times), miRNA-125b, miRNA-99a, let-7c, miRNA -210, miRNA-205, miRNA-532-5p, miRNA-136, miRNA-199a-5p, miRNA409-3p, miRNA-215 and miRNA- 27), miRNA-23a, miRNA-17 and miRNA-18a, etc. Conclusion: There is a significant miRNA expression difference between maternal serum of DS group and healthy control group in early pregnancy, suggesting that serum miRNA can be used as an early marker of noninvasive prenatal diagnosis of DS fetus.