title: Proteomic analysis of amniotic fluid in pregnancies with Klinefelter syndrome foetuses.
abstract: 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.
authors.affiliation: Medical Genetics, Athens University School of Medicine, Athens, Greece.
authors.forename: Athanasios K
authors.initials: AK
authors.lastname: Anagnostopoulos
authors.forename: Aggeliki
authors.initials: A
authors.lastname: Kolialexi
authors.forename: Ariadni
authors.initials: A
authors.lastname: Mavrou
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Vougas
authors.forename: Nikos
authors.initials: N
authors.lastname: Papantoniou
authors.forename: Aris
authors.initials: A
authors.lastname: Antsaklis
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Kanavakis
authors.forename: Michael
authors.initials: M
authors.lastname: Fountoulakis
authors.forename: George Th
authors.initials: GT
authors.lastname: Tsangaris
mesh_terms: D000653:Amniotic Fluid / Q000737:chemistry*; D016632:Apolipoprotein A-I / Q000097:blood; D016022:Case-Control Studies; D002570:Ceruloplasmin / Q000032:analysis; D005260:Female; D005333:Fetus; D005786:Gene Expression Regulation; D006801:Humans; D007713:Klinefelter Syndrome / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis / Q000379:methods; D040901:Proteomics / Q000379:methods*; D054839:Retinol-Binding Proteins, Plasma / Q000032:analysis
chemical_list: D016632:Apolipoprotein A-I; D054839:Retinol-Binding Proteins, Plasma; D002570:Ceruloplasmin