A Novel JAK2 Exon 12 Mutation Identified in the Retrospective Analysis of Paraffin-embedded Tissues of Polycythemia Vera Patients
| Autor: | Andrea Vanochova, Zora Lasabova, Lukáš Plank, Tatiana Burjanivova, Gabriel Minarik, Juraj Marcinek, Hubert Poláček, Szépe P, Tomas Balharek |
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| Rok vydání: | 2009 |
| Předmět: |
Adult
Male Tissue Fixation Adolescent Sequence analysis Molecular Sequence Data Mutation Missense Biology Pathology and Forensic Medicine law.invention Young Adult Exon Polycythemia vera INDEL Mutation law hemic and lymphatic diseases medicine Humans Missense mutation Amino Acid Sequence Child Polycythemia Vera Molecular Biology Polymerase chain reaction Aged Aged 80 and over Paraffin Embedding Base Sequence food and beverages Exons Sequence Analysis DNA Cell Biology Janus Kinase 2 Middle Aged medicine.disease Molecular biology Mutation (genetic algorithm) Female Primer (molecular biology) hormones hormone substitutes and hormone antagonists |
| Zdroj: | Diagnostic Molecular Pathology. 18:108-111 |
| ISSN: | 1052-9551 |
| DOI: | 10.1097/pdm.0b013e318190eed0 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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