Proteomic analysis of amniotic fluid in pregnancies with Klinefelter syndrome foetuses.
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.
Anagnostopoulos
Athanasios K
AK
Medical Genetics, Athens University School of Medicine, Athens, Greece.
Kolialexi
Aggeliki
A
Mavrou
Ariadni
A
Vougas
Konstantinos
K
Papantoniou
Nikos
N
Antsaklis
Aris
A
Kanavakis
Emmanuel
E
Fountoulakis
Michael
M
Tsangaris
George Th
GT
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
D016632:Apolipoprotein A-I; D054839:Retinol-Binding Proteins, Plasma; D002570:Ceruloplasmin