Linked Life Data

8990216

Source:http://linkedlifedata.com/resource/pubmed/id/8990216

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1997-1-30
pubmed:abstractText
We developed a diagnostic test based on the reverse dot-blot principle, in which five mitochondrial point mutations responsible for Leber hereditary optic neuropathy (LHON) were screened simultaneously. A series of wild-type and mutant oligonucleotides representing each mutation were covalently bound to a single nylon membrane strip. The target sites were amplified in a multiplex PCR and the products were hybridized to the membrane. Detection is based on chemiluminescence. To test the developed assay, 47 patients suspected of having LHON were screened. In 11 cases (23%) the diagnosis of LHON could be confirmed (3460, 1; 9804, 1; 11778, 5; 14484, 3; 15257, 1). The results suggest that the clinical identification of the mitochondrial defect is not trivial and the availability of a rapid screening method simplifies the molecular analysis of these cases.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0009-9147
pubmed:author
pubmed:issnType
Print
pubmed:volume
43
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
18-23
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
Development of reverse dot-blot system for screening of mitochondrial DNA mutations associated with Leber hereditary optic atrophy.
pubmed:affiliation
Center for Human Genetics, University of Leuven, Belgium.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't