Abstract
BackgroundDown Syndrome (DS) has a very high morbidity, according to statistics, the incidence rate of DS is as high as 1:700 among the new born babies. At present, there are still no effective prevention or treatment methods for the disease. We used a Western Blot technique to validate differentially expressed proteins between DS foetal umbilical cord blood plasma and healthy foetal peripheral blood plasma from pregnant women to identify new prenatal diagnostic biomarkers for down syndrome (DS) and establish a new non-invasive prenatal diagnosis method.MethodsWe collected maternal peripheral blood (8 with foetal DS and 8 from normal foetuses) from April 2013 to January 2014, and separated the plasma. We combined the clinical characteristics and clinical differentially expressed proteins between DS foetal umbilical cord blood plasma and healthy foetal umbilical cord blood plasma to identify specific protein marker candidates and prepared monoclonal antibodies, which were then used for Western Blot technique to analyse the candidate markers.ResultsIn the DS foetal maternal plasma, serum amyloid P-component, Apolipoprotein E, Nucleosome assembly protein 1-like 1, Complement factor B,ERO1-like protein alpha, 2-oxoglutarate dehydrogenase-like, and Thymosin beta 10 were up-regulated proteins compared to the healthy control group, and the DS group showed higher expression, which agreed with the results from the DS foetal umbilical cord blood plasma.ConclusionThe up-regulated amyloid P-component, Apolipoprotein E, Nucleosome assembly protein 1-like 1, Complement factor B, ERO1-like protein alpha, 2-oxoglutarate dehydrogenase-like, Thymosin beta 10 all are up-regulation, all of them have potential to be prenatal diagnosis biomarkers for DS, and these biomarkers can further reveal the pathogenesis of DS.
Highlights
Down Syndrome (DS) has a very high morbidity, according to statistics, the incidence rate of DS is as high as 1:700 among the new born babies
Candidate markers We identified 7 proteins (Apolipoprotein E (ApoE), ERO1-like protein alpha (ERO1L), Serum amyloid P-component (SAP), Complement factor B, 2-oxoglutarate dehydrogenase-like (OGDHL), Nucleosome assembly protein 1-like 1 (NAP1L1), and Thymosin beta-10 (Tβ10)) from proteome information and umbilical cord blood plasma with a DS foetus [11] as candidate biomarkers according to their clinical significance and differential expression in umbilical cord blood plasma
We reported on 7 proteins (OGDHL, SAP, ApoE, NAP1L1, Thymosin β10 (Tβ10), Complement factor B, and ERO1L), that have been proven to be differentially expressed in umbilical cord blood from a pregnancy with a DS foetus [10]
Summary
Down Syndrome (DS) has a very high morbidity, according to statistics, the incidence rate of DS is as high as 1:700 among the new born babies. Down’s Syndrome (Down Syndrome, DS), trisomy of chromosome 21, mongolism or DS is the most common paediatric euchromosome aberration birth defect caused by diseases [1] and is associated with a number of deleterious phenotypes, including cognitive impairment, heart defects, childhood leukaemia and altered immune responses [2]. These deleterious phenotypes are thought to result from interactions between chromosome 21 (Hsa21) genes and Hsa genes interacting with other disomic genes [2, 3]. Studies have shown that its detection rate is merely 60–75% with a 5% false positive rate [8]
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