Linked Life Data

2363611

Source:http://linkedlifedata.com/resource/pubmed/id/2363611

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1990-8-8
pubmed:abstractText
Cystic fibrosis (CF) screening by means of immunoreactive trypsin (IRT) lacks specificity: only 1 out of 12 hypertrypsinemic neonates has cystic fibrosis. We propose here to analyse the KM.19 polymorphic site in the dried blood spots as an additional test in hypertrypsinemic neonates. A blind retrospective study of 114 hypertrypsinemic samples has been performed after polymerase chain reaction. Twenty-seven of 37 CF (74%) were homozygous for allele 2 (2-2) and could have been diagnosed on the 15th day of life. Fifty-five percent of the infants tested were homozygous for allele 1 (1-1), a very rare feature in CF, conferring them a probability of being normal of 99.8%. At the moment, this test could be of great help in the CF screening, even better than the search for the delta F508 mutation for which 45.9% of CF patients are homozygous.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0003-9764
pubmed:author
pubmed:issnType
Print
pubmed:volume
47
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
251-3
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1990
pubmed:articleTitle
[A new strategy of neonatal screening for cystic fibrosis. The association of immunoreactive trypsin and molecular biology in dried blood].
pubmed:affiliation
Service de Biophysique Médicale, CHRU de Caen.
pubmed:publicationType
Journal Article, English Abstract