Document Detail


Proteomic analysis of amniotic fluid in pregnancies with Klinefelter syndrome foetuses.
MedLine Citation:
PMID:  20045495     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
Athanasios K Anagnostopoulos; Aggeliki Kolialexi; Ariadni Mavrou; Konstantinos Vougas; Nikos Papantoniou; Aris Antsaklis; Emmanuel Kanavakis; Michael Fountoulakis; George Th Tsangaris
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Publication Detail:
Type:  Journal Article     Date:  2010-01-04
Journal Detail:
Title:  Journal of proteomics     Volume:  73     ISSN:  1876-7737     ISO Abbreviation:  J Proteomics     Publication Date:  2010 Mar 
Date Detail:
Created Date:  2010-03-02     Completed Date:  2010-07-06     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101475056     Medline TA:  J Proteomics     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  943-50     Citation Subset:  IM    
Copyright Information:
Copyright (c) 2009 Elsevier B.V. All rights reserved.
Affiliation:
Medical Genetics, Athens University School of Medicine, Athens, Greece.
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MeSH Terms
Descriptor/Qualifier:
Amniotic Fluid / chemistry*
Apolipoprotein A-I / blood
Case-Control Studies
Ceruloplasmin / analysis
Female
Fetus
Gene Expression Regulation
Humans
Klinefelter Syndrome / diagnosis,  genetics*
Male
Pregnancy
Pregnancy Trimester, Second
Prenatal Diagnosis / methods
Proteomics / methods*
Retinol-Binding Proteins, Plasma / analysis
Chemical
Reg. No./Substance:
0/Apolipoprotein A-I; 0/Retinol-Binding Proteins, Plasma; EC 1.16.3.1/Ceruloplasmin

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