Linked Life Data

1978221

Source:http://linkedlifedata.com/resource/pubmed/id/1978221

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1990-12-10
pubmed:abstractText
Cloning of the cystic fibrosis gene and the identification of the predominant disease-causing mutation did not only help in the understanding of this frequent disease, but was immediately followed by applications in direct gene diagnosis. We describe a method for the detection of the so-called delta F508 deletion, which accounts for 70% of the mutations: a polymerase chain reaction with two different combinations of oligonucleotide primers, which discriminate between mutant and wild-type alleles. This allele-specific amplification provides a rapid, non-radioactive and very reliable method for direct genotyping. Establishment of the procedure and its application in diagnosis are described. We further report preliminary data on the frequency of this mutation in German patients and its association with restriction fragment length polymorphism haplotypes.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0735-1313
pubmed:author
pubmed:issnType
Print
pubmed:volume
7
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
359-64
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1990
pubmed:articleTitle
Direct gene diagnosis of cystic fibrosis by allele-specific polymerase chain reactions.
pubmed:affiliation
Institut für Humangenetik, Universitaet Goettingen, F.R.G.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't