TY - JOUR
TI - Proteomic analysis of amniotic fluid in pregnancies with Klinefelter
syndrome foetuses
AU - Anagnostopoulos, Athanasios K.
AU - Kolialexi, Aggeliki
AU - Mavrou,
AU - Ariadni
AU - Vougas, Konstantinos
AU - Papantoniou, Nikos
AU - Antsaklis,
AU - Aris
AU - Kanavakis, Emmanuel
AU - Fountoulakis, Michael
AU - Tsangaris,
AU - George Th.
JO - Journal of Proteomics
PY - 2010
VL - 73
TODO - 5
SP - 943-950
PB - ELSEVIER SCIENCE BV
SN - 1874-3919
TODO - 10.1016/j.jprot.2009.12.009
TODO - Proteomics; Amniotic fluid; Klinefelter syndrome; Prenatal diagnosis;
Pregnancy
TODO - Klinefelter syndrome is a sex chromosomal abnormality (47, XXY
karyotype), occuring 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
retinal-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 (C) 2009 Elsevier B V All rights reserved
ER -