Medical Genetics, Athens University School of Medicine, Athens, Greece.
J Proteomics. 2010 Mar 10;73(5):943-50. doi: 10.1016/j.jprot.2009.12.009. Epub 2010 Jan 4.
Klinefelter syndrome is a sex chromosomal abnormality (47, XXY karyotype), occurring approximately in 1 in 1000 male live births. In the present study proteomic analysis was performed in twelve 2nd trimester amniotic fluid samples, eight coming from pregnancies with normal males and four with Klinefelter syndrome foetuses, as shown by routine prenatal cytogenetic analysis. Samples were analysed by 2-DE, coupled with MALDI-TOF-MS analysis. Three proteins (Ceruloplasmin, Alpha-1-antitrypsin and Zinc-alpha-2-glycoprotein) were found to be up-regulated in samples obtained from pregnancies with Klinefelter syndrome foetuses, whereas four proteins (Apolipoprotein A-I, Plasma retinol-binding protein, Gelsolin, and Vitamin D-binding protein) were down regulated when compared to proteins detected in samples from normal foetuses. The differential expression of Ceruloplasmin, Apolipoprotein A-I and Plasma retinol-binding protein was further confirmed by immunoblotting. Since these proteins are likely to cross the placenta barrier and be detected in maternal plasma they could be used as biomarkers for the non-invasive prenatal diagnosis of Klinefelter syndrome.
克氏综合征是一种性染色体异常（47，XXY 核型），在 1000 名男性活产儿中约有 1 例发生。本研究对 12 例孕中期羊水样本进行了蛋白质组学分析，其中 8 例来自正常男性胎儿的妊娠，4 例来自克氏综合征胎儿的妊娠，这是通过常规产前细胞遗传学分析确定的。采用 2-DE 结合 MALDI-TOF-MS 分析对样本进行了分析。与正常胎儿样本中检测到的蛋白质相比，在来自克氏综合征胎儿妊娠的样本中发现了 3 种上调的蛋白质（铜蓝蛋白、α-1-抗胰蛋白酶和锌-α-2-糖蛋白），而 4 种蛋白质（载脂蛋白 A-I、血浆视黄醇结合蛋白、凝胶蛋白和维生素 D 结合蛋白）下调。通过免疫印迹进一步证实了铜蓝蛋白、载脂蛋白 A-I 和血浆视黄醇结合蛋白的差异表达。由于这些蛋白质可能穿过胎盘屏障并在母体血浆中检测到，因此它们可作为非侵入性产前诊断克氏综合征的生物标志物。
