Maspin基因甲基化水平检测诊断爱德华兹综合征的价值分析

Diagnostic value of methylation level of Maspin gene in Edwards＇s syndrome

目的：探讨母体血浆中Maspin基因作为DNA遗传标记物，筛查胎儿爱德华兹综合症的临床价值。方法：收集孕早、中、晚期孕妇及非孕妇女血浆各15名，提取游离DNA，以甲基化特异性PCIK检测各组血浆游离DNA中Maspin基因的甲基化水平；收集引产术胎盘组织及孕妇外周血单核细胞各15例，检测Maspin基因甲基化水平；收集确诊爱德华兹综合症胎儿的孕妇血浆34例及正常孕妇外周血浆45例，检测并对比Maspin甲基化水平。结果：与未孕组相比，孕早期、孕中期、孕晚期组MASPIN基因甲基化水平显著增高，差异具有显著统计学意义（P〈0．01）。在正常产妇中，胎盘组织中MASPIN甲基化水平（15／15）显著高于血单核细胞中MASPIN甲基化水平（0／15）（P〈0．01）。与正常产妇相比，爱德华兹综合征胎儿母体血浆中的MASPIN基因甲基化率只有14．71％（5／34），而正常胎儿的孕妇血浆的甲基化率达到了88．9％，差异具有显著统计学意义（P〈0．01）。结论Maspin基因甲基化水平在爱德华兹综合征胎儿母体外周血中的差异，在非创伤性产前诊断爱德华兹综合征中有一定临床价值，能够为爱德华兹综合征的无创产前诊断提供新方向。

Objective： To investigate the clinical value of maternal plasma Maspin gene as a DNA genetic marker in screening for fetal Edwards＇s syndrome. Methods： The plasma of 15 early, middle and late pregnant women and non-pregnant women were collected separately, then the free DNA was extracted. Methylation specific PClK was used to detect the methylation level ofMaspin gene in plasma free DNA. 15 cases of placental tissue and peripheral blood mononuclear cells of pregnant women were collected, and the methylation level ofMaspin gene was detected. 34 cases of pregnant women with Edwards＇s syndrome and 45 normal pregnant women were collected. The levels of Maspin methylafion were detected and compared. Results： Compared with the non-pregnant group, the methylation level of MASPIN gene increased significantly in the early, middle, late pregnancy group, and the difference was statistically significant （P〈0.01） . In normal women, the MASPIN methylation level （15/15） in placental tissues was significantly higher than that in blood monocytes （0/15） （MASPIN） （P〈0.01） . Compared with normal pregnant women, the methylation rate ofMASPIN gene in Edwards integrated maternal plasma was only 14.71% （5/34） , and the methylation rate of normal fetal maternal plasma reached 88.9%, the difference was statistically significant （P〈0.01） . Conclusions： The difference of Maspin gene methylation level in peripheral blood of fetal mother with Edwards syndrome can provide a new direction for noninvasive prenatal diagnosis of Edwards＇s syndrome.