Linked Life Data

12383672

Source:http://linkedlifedata.com/resource/pubmed/id/12383672

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9338
pubmed:dateCreated
2002-10-17
pubmed:abstractText
The discovery of the presence of fetal DNA in maternal plasma has provided a new approach for non-invasive prenatal diagnosis. At present, the prenatal diagnosis of beta thalassaemia relies on invasive methods. We designed allele-specific primers and a fluorescent probe for detection of the codon 41/42 (-CTTT) mutation in the beta globin gene from maternal plasma by real-time PCR. The specificity and sensitivity of the allele-specific assay was confirmed by subjecting plasma, buffy coat, and amniotic fluid samples from 100 pregnancies to screening for the mutation. Subsequently, the assay was applied to the prenatal testing of eight fetuses at risk of beta thalassaemia major, the aim being to exclude fetal inheritance of paternally transmitted codon 41/42 mutation. The fetal genotype was completely concordant with conventional analysis and beta thalassaemia major was excluded in two of the pregnancies non-invasively.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0140-6736
pubmed:author
pubmed:issnType
Print
pubmed:day
28
pubmed:volume
360
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
998-1000
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2002
pubmed:articleTitle
Prenatal exclusion of beta thalassaemia major by examination of maternal plasma.
pubmed:affiliation
Department of Chemical Pathology, Chinese University of Hong Kong, Prince of Wales Hospital, Room 38023, 1/F Clinical Sciences Building, 30-32 Ngan Shing Street, Shatin, New Territories, Hong Kong SAR, Hong Kong.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't