Source:http://linkedlifedata.com/resource/pubmed/id/19430293
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
|
| pubmed:dateCreated |
2009-5-25
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| pubmed:abstractText |
The aim of the study was to screen formalin-fixed, paraffin-embedded tissues of polycythemia vera patients for the presence of JAK2(V617F) and JAK2 exon 12 mutations. Of 64 cases, 60 were positive for JAK2(V617F) mutation using allele-specific polymerase chain reaction (PCR). Using modified allele-specific PCR, samples of 4 JAK2(V617F)-negative patients were analyzed for the presence of JAK2 exon 12 mutations. In one case, we found a PCR product matching with allele-specific primer, which was designed to detect the N542-E543del mutation. Surprisingly, in the result sequence we have detected another recently described mutation, R541-E543delinsK. In the other 3 JAK2(V617F)-negative patients, allele-specific PCR for the detection of JAK2 exon 12 mutations did not yield any product. However, in 1 case, the sequencing of JAK2 exon 12 PCR product revealed a novel mutation, H538-K539delinsF. We confirmed that paraffin-embedded tissues represent a valuable source of DNA, which can be used in diagnostics of both JAK2 exon 12 and exon 14 mutations and we described 1 novel JAK2 exon 12 mutation.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jun
|
| pubmed:issn |
1533-4066
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| pubmed:author | |
| pubmed:issnType |
Electronic
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| pubmed:volume |
18
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
108-11
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| pubmed:dateRevised |
2009-11-19
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| pubmed:meshHeading |
pubmed-meshheading:19430293-Adolescent,
pubmed-meshheading:19430293-Adult,
pubmed-meshheading:19430293-Aged,
pubmed-meshheading:19430293-Aged, 80 and over,
pubmed-meshheading:19430293-Amino Acid Sequence,
pubmed-meshheading:19430293-Base Sequence,
pubmed-meshheading:19430293-Child,
pubmed-meshheading:19430293-Exons,
pubmed-meshheading:19430293-Female,
pubmed-meshheading:19430293-Humans,
pubmed-meshheading:19430293-INDEL Mutation,
pubmed-meshheading:19430293-Janus Kinase 2,
pubmed-meshheading:19430293-Male,
pubmed-meshheading:19430293-Middle Aged,
pubmed-meshheading:19430293-Molecular Sequence Data,
pubmed-meshheading:19430293-Mutation, Missense,
pubmed-meshheading:19430293-Paraffin Embedding,
pubmed-meshheading:19430293-Polycythemia Vera,
pubmed-meshheading:19430293-Sequence Analysis, DNA,
pubmed-meshheading:19430293-Tissue Fixation,
pubmed-meshheading:19430293-Young Adult
|
| pubmed:year |
2009
|
| pubmed:articleTitle |
A novel JAK2 exon 12 mutation identified in the retrospective analysis of paraffin-embedded tissues of polycythemia vera patients.
|
| pubmed:affiliation |
Department of Pathology and National Consultation Center for Hematopathology, Comenius University, Martin, Slovakia. BTatiana@seznam.cz
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|