Linked Life Data

17987605

Source:http://linkedlifedata.com/resource/pubmed/id/17987605

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
13
pubmed:dateCreated
2007-12-6
pubmed:abstractText
Single nucleated red blood cells (NRBCs) isolated from maternal circulation were used for prenatal diagnosis of beta-thalassaemia. The study included 22 pregnant women in the first trimester, 6 carriers at risk for beta-thalassaemia and 16 noncarriers. Methodology involved enrichment of NRBCs by magnetic cell sorting (MACS) and microdissection of single NRBCs with a laser micromanipulation system. Single-cell genotyping based on nested real-time PCR for genotyping beta-globin gene mutations was performed followed by a multiplexed minifingerprinting to confirm the origin of the isolated cells and possible contamination. Two polymorphic markers (D13S314 and GABRB3) facilitated the identification of fetal NRBCs through comparison of allele sizes found in the respective parents. In this study, 224 single NRBCs were detached and transferred into individual PCR tubes. Allele amplification in at least one microsatellite marker was achieved in 128/224 cells. Minifingerprinting analysis showed that 22 cells were fetal, 26 maternal and 80 were noninformative due to ADO or homozygosity. In 6 NRBCs the beta-globin gene was amplified and in 2, coming from the same pregnancy, only the paternal mutation was detected. The low PCR success when genotyping isolated NRBCs was possibly due to the poor quality of fetal NRBCs and the relatively large size of the beta-globin gene product.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0197-3851
pubmed:author
pubmed:copyrightInfo
Copyright (c) 2007 John Wiley & Sons, Ltd.
pubmed:issnType
Print
pubmed:volume
27
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1228-32
pubmed:dateRevised
2009-11-3
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Noninvasive prenatal diagnosis of beta-thalassaemia using individual fetal erythroblasts isolated from maternal blood after enrichment.
pubmed:affiliation
Department of Medical Genetics and Athens University School of Medicine, Athens, Greece.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't, Evaluation Studies