Mavrou Ariadni, Anagnostopoulos Athanasios K, Kolialexi Aggeliki, Vougas Konstantinos, Papantoniou Nikos, Antsaklis Aris, Fountoulakis Michael, Tsangaris George Th
Medical Genetics, Athens University School of Medicine, Athens, Greece.
J Proteome Res. 2008 May;7(5):1862-6. doi: 10.1021/pr700588u. Epub 2008 Mar 26.
Turner syndrome, occurring in 1:2500 female births, is caused by the complete or partial absence of one X chromosome. Amniotic fluid supernatant proteins from five second trimester pregnancies with Turner syndrome fetuses and five normal ones were analyzed by 2DE, MALDI-TOF-MS, and Western blot. Serotransferin, lumican, plasma retinol-binding protein, and apolipoprotein A-I were increased in Turner syndrome, while kininogen, prothrombin, and apolipoprotein A-IV were decreased. Since differentially expressed proteins are likely to cross the placenta barrier and be detected in maternal plasma, proteomic analysis may enhance research for noninvasive prenatal diagnosis of Turner syndrome.
特纳综合征在每2500例女性出生中出现1例，由一条X染色体完全或部分缺失引起。对5例孕中期患有特纳综合征胎儿的孕妇和5例正常孕妇的羊水上清液蛋白质进行了二维电泳、基质辅助激光解吸电离飞行时间质谱和蛋白质印迹分析。特纳综合征患者的血清转铁蛋白、核心蛋白聚糖、血浆视黄醇结合蛋白和载脂蛋白A-I增加，而激肽原、凝血酶原和载脂蛋白A-IV减少。由于差异表达的蛋白质可能穿过胎盘屏障并在母体血浆中被检测到，蛋白质组学分析可能会加强对特纳综合征无创产前诊断的研究。
